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  Subjects -> HUMANITIES (Total: 881 journals)
    - ASIAN STUDIES (157 journals)
    - CLASSICAL STUDIES (110 journals)
    - DEMOGRAPHY AND POPULATION STUDIES (146 journals)
    - ETHNIC INTERESTS (156 journals)
    - GENEALOGY AND HERALDRY (7 journals)
    - HUMANITIES (277 journals)
    - NATIVE AMERICAN STUDIES (28 journals)

HUMANITIES (277 journals)                  1 2     

Showing 1 - 71 of 71 Journals sorted alphabetically
Aboriginal and Islander Health Worker Journal     Full-text available via subscription   (Followers: 11)
Aboriginal Child at School     Full-text available via subscription   (Followers: 4)
About Performance     Full-text available via subscription   (Followers: 9)
Access     Full-text available via subscription   (Followers: 25)
ACCESS: Critical Perspectives on Communication, Cultural & Policy Studies     Full-text available via subscription   (Followers: 10)
Acta Academica     Full-text available via subscription   (Followers: 5)
Acta Universitaria     Open Access   (Followers: 4)
Adeptus     Open Access   (Followers: 1)
Advocate: Newsletter of the National Tertiary Education Union     Full-text available via subscription   (Followers: 2)
African and Black Diaspora: An International Journal     Hybrid Journal   (Followers: 11)
African Historical Review     Hybrid Journal   (Followers: 16)
AFRREV IJAH : An International Journal of Arts and Humanities     Open Access   (Followers: 2)
Agriculture and Human Values     Hybrid Journal   (Followers: 12)
Akademika : Journal of Southeast Asia Social Sciences and Humanities     Open Access   (Followers: 4)
Aldébaran     Open Access   (Followers: 2)
Altre Modernità     Open Access   (Followers: 3)
Amaltea. Revista de mitocrítica     Open Access   (Followers: 1)
American Imago     Full-text available via subscription   (Followers: 3)
American Journal of Humanities and Social Sciences     Open Access   (Followers: 9)
American Review of Canadian Studies     Hybrid Journal   (Followers: 6)
Anabases     Open Access  
Analyse & Kritik. Zeitschrift f     Full-text available via subscription   (Followers: 1)
Angelaki: Journal of Theoretical Humanities     Hybrid Journal   (Followers: 16)
Antik Tanulmányok     Full-text available via subscription  
Antipode     Hybrid Journal   (Followers: 44)
Anuario Americanista Europeo     Open Access  
Arbutus Review     Open Access  
Argumentation et analyse du discours     Open Access   (Followers: 6)
Ars & Humanitas     Open Access   (Followers: 5)
Arts and Humanities in Higher Education     Hybrid Journal   (Followers: 32)
Asia Europe Journal     Hybrid Journal   (Followers: 4)
Australasian Journal of Popular Culture, The     Hybrid Journal   (Followers: 2)
Behaviour & Information Technology     Hybrid Journal   (Followers: 52)
Behemoth     Open Access   (Followers: 3)
Bereavement Care     Hybrid Journal   (Followers: 10)
Cahiers de praxématique     Open Access   (Followers: 1)
Carl Beck Papers in Russian and East European Studies     Full-text available via subscription   (Followers: 5)
Child Care     Full-text available via subscription   (Followers: 7)
Choreographic Practices     Hybrid Journal   (Followers: 1)
Chronicle of Philanthropy     Full-text available via subscription   (Followers: 2)
Ciencias Sociales y Humanidades     Open Access   (Followers: 1)
Claroscuro     Open Access   (Followers: 1)
Co-herencia     Open Access  
Coaching: An International Journal of Theory, Research and Practice     Hybrid Journal   (Followers: 8)
Cogent Arts & Humanities     Open Access   (Followers: 3)
Colloquia Humanistica     Open Access  
Communication and Critical/Cultural Studies     Hybrid Journal   (Followers: 23)
Comprehensive Therapy     Hybrid Journal   (Followers: 3)
Congenital Anomalies     Hybrid Journal   (Followers: 1)
Conjunctions. Transdisciplinary Journal of Cultural Participation     Open Access   (Followers: 2)
Conservation Science in Cultural Heritage     Open Access   (Followers: 9)
Cornish Studies     Hybrid Journal   (Followers: 2)
Creative Industries Journal     Hybrid Journal   (Followers: 8)
Critical Arts : South-North Cultural and Media Studies     Hybrid Journal   (Followers: 11)
Crossing the Border : International Journal of Interdisciplinary Studies     Open Access   (Followers: 4)
Cuadernos de historia de España     Open Access   (Followers: 3)
Cultural History     Hybrid Journal   (Followers: 20)
Cultural Studies     Hybrid Journal   (Followers: 46)
Culturas     Open Access   (Followers: 1)
Culture, Theory and Critique     Hybrid Journal   (Followers: 25)
Daedalus     Hybrid Journal   (Followers: 18)
Dandelion : Postgraduate Arts Journal & Research Network     Open Access   (Followers: 2)
Death Studies     Hybrid Journal   (Followers: 16)
Debatte: Journal of Contemporary Central and Eastern Europe     Hybrid Journal   (Followers: 5)
Digital Humanities Quarterly     Open Access   (Followers: 53)
Diogenes     Hybrid Journal   (Followers: 8)
Doct-Us Journal     Open Access  
Dorsal Revista de Estudios Foucaultianos     Open Access  
e-Hum : Revista das Áreas de Humanidade do Centro Universitário de Belo Horizonte     Open Access   (Followers: 1)
Early Modern Culture Online     Open Access   (Followers: 37)
Égypte - Monde arabe     Open Access   (Followers: 4)
Eighteenth-Century Fiction     Full-text available via subscription   (Followers: 19)
Éire-Ireland     Full-text available via subscription   (Followers: 8)
En-Claves del pensamiento     Open Access   (Followers: 1)
Ethiopian Journal of the Social Sciences and Humanities     Full-text available via subscription   (Followers: 6)
Études arméniennes contemporaines     Open Access   (Followers: 1)
Études canadiennes / Canadian Studies     Open Access   (Followers: 1)
Études de lettres     Open Access   (Followers: 2)
European Journal of Cultural Studies     Hybrid Journal   (Followers: 23)
European Journal of Social Theory     Hybrid Journal   (Followers: 15)
Expositions     Full-text available via subscription  
Fronteras : Revista de Ciencias Sociales y Humanidades     Open Access   (Followers: 2)
Fudan Journal of the Humanities and Social Sciences     Hybrid Journal  
GAIA - Ecological Perspectives for Science and Society     Full-text available via subscription   (Followers: 3)
German Research     Hybrid Journal   (Followers: 1)
German Studies Review     Full-text available via subscription   (Followers: 26)
Germanic Review, The     Hybrid Journal   (Followers: 5)
Globalizations     Hybrid Journal   (Followers: 8)
Gothic Studies     Full-text available via subscription   (Followers: 14)
Gruppendynamik und Organisationsberatung     Hybrid Journal  
Habitat International     Hybrid Journal   (Followers: 5)
Hacettepe Üniversitesi Edebiyat Fakültesi Dergisi     Open Access   (Followers: 1)
Harvard Journal of Asiatic Studies     Full-text available via subscription   (Followers: 11)
Heritage & Society     Hybrid Journal   (Followers: 15)
History of Humanities     Full-text available via subscription   (Followers: 4)
Hopscotch: A Cultural Review     Full-text available via subscription  
Human Affairs     Open Access   (Followers: 1)
Human and Ecological Risk Assessment: An International Journal     Hybrid Journal   (Followers: 4)
Human Nature     Hybrid Journal   (Followers: 14)
Human Performance     Hybrid Journal   (Followers: 4)
Human Remains and Violence : An Interdisciplinary Journal     Full-text available via subscription  
Human Studies     Hybrid Journal   (Followers: 11)
humanidades     Open Access  
Humanitaire     Open Access   (Followers: 1)
Humanities     Open Access   (Followers: 11)
Hungarian Cultural Studies     Open Access  
Hungarian Studies     Full-text available via subscription  
Ibadan Journal of Humanistic Studies     Full-text available via subscription  
Inkanyiso : Journal of Humanities and Social Sciences     Open Access   (Followers: 1)
Inter Faculty     Open Access  
Interim : Interdisciplinary Journal     Open Access   (Followers: 3)
International Journal for History, Culture and Modernity     Open Access   (Followers: 5)
International Journal of Arab Culture, Management and Sustainable Development     Hybrid Journal   (Followers: 8)
International Journal of Cultural Studies     Hybrid Journal   (Followers: 22)
International Journal of Heritage Studies     Hybrid Journal   (Followers: 16)
International Journal of Humanities and Arts Computing     Hybrid Journal   (Followers: 13)
International Journal of Humanities and Cultural Studies     Open Access   (Followers: 2)
International Journal of Humanities of the Islamic Republic of Iran     Open Access   (Followers: 11)
International Journal of Listening     Hybrid Journal   (Followers: 4)
International Journal of the Classical Tradition     Hybrid Journal   (Followers: 7)
Interventions : International Journal of Postcolonial Studies     Hybrid Journal   (Followers: 15)
ÍSTMICA. Revista de la Facultad de Filosofía y Letras     Open Access  
Jangwa Pana     Open Access  
Jewish Culture and History     Hybrid Journal   (Followers: 17)
Journal de la Société des Américanistes     Open Access  
Journal des africanistes     Open Access   (Followers: 1)
Journal for Cultural Research     Hybrid Journal   (Followers: 11)
Journal for General Philosophy of Science     Hybrid Journal   (Followers: 6)
Journal for Learning Through the Arts     Open Access   (Followers: 7)
Journal for New Generation Sciences     Open Access   (Followers: 2)
Journal for Research into Freemasonry and Fraternalism     Hybrid Journal   (Followers: 1)
Journal for Semitics     Full-text available via subscription   (Followers: 5)
Journal Of Advances In Humanities     Open Access   (Followers: 2)
Journal of Aesthetics & Culture     Open Access   (Followers: 18)
Journal of African American Studies     Hybrid Journal   (Followers: 8)
Journal of African Cultural Studies     Hybrid Journal   (Followers: 5)
Journal of African Elections     Full-text available via subscription  
Journal of Arts & Communities     Hybrid Journal   (Followers: 4)
Journal of Arts and Humanities     Open Access   (Followers: 18)
Journal of Bioethical Inquiry     Hybrid Journal   (Followers: 3)
Journal of Cultural Economy     Hybrid Journal   (Followers: 9)
Journal of Cultural Geography     Hybrid Journal   (Followers: 21)
Journal of Data Mining and Digital Humanities     Open Access   (Followers: 24)
Journal of Developing Societies     Hybrid Journal   (Followers: 2)
Journal of Family Theory & Review     Hybrid Journal   (Followers: 3)
Journal of Franco-Irish Studies     Open Access   (Followers: 1)
Journal of Happiness Studies     Hybrid Journal   (Followers: 23)
Journal of Interactive Humanities     Open Access   (Followers: 3)
Journal of Intercultural Communication Research     Hybrid Journal   (Followers: 14)
Journal of Intercultural Studies     Hybrid Journal   (Followers: 12)
Journal of Interdisciplinary History     Hybrid Journal   (Followers: 22)
Journal of Labor Research     Hybrid Journal   (Followers: 18)
Journal of Medical Humanities     Hybrid Journal   (Followers: 22)
Journal of Medieval and Early Modern Studies     Full-text available via subscription   (Followers: 31)
Journal of Modern Greek Studies     Full-text available via subscription   (Followers: 4)
Journal of Modern Jewish Studies     Hybrid Journal   (Followers: 11)
Journal of Open Humanities Data     Open Access   (Followers: 1)
Journal of Semantics     Hybrid Journal   (Followers: 11)
Journal of the Musical Arts in Africa     Hybrid Journal   (Followers: 1)
Journal of Visual Culture     Hybrid Journal   (Followers: 30)
Jurisprudence     Hybrid Journal   (Followers: 17)
L'Orientation scolaire et professionnelle     Open Access   (Followers: 1)
La lettre du Collège de France     Open Access  
La Revue pour l’histoire du CNRS     Open Access   (Followers: 2)
Lagos Notes and Records     Full-text available via subscription  
Language and Intercultural Communication     Hybrid Journal   (Followers: 20)
Language Resources and Evaluation     Hybrid Journal   (Followers: 7)
Law and Humanities     Hybrid Journal   (Followers: 7)
Law, Culture and the Humanities     Hybrid Journal   (Followers: 11)
Le Portique     Open Access   (Followers: 1)
Leadership     Hybrid Journal   (Followers: 31)
Legal Ethics     Hybrid Journal   (Followers: 13)
Legon Journal of the Humanities     Full-text available via subscription  
Letras : Órgano de la Facultad de Letras y Ciencias Huamans     Open Access  
Literary and Linguistic Computing     Hybrid Journal   (Followers: 5)
Litnet Akademies : 'n Joernaal vir die Geesteswetenskappe, Natuurwetenskappe, Regte en Godsdienswetenskappe     Open Access  
Lwati : A Journal of Contemporary Research     Full-text available via subscription  
Measurement     Hybrid Journal   (Followers: 2)
Medical Humanities     Full-text available via subscription   (Followers: 24)
Medieval Encounters     Hybrid Journal   (Followers: 9)
Médiévales     Open Access   (Followers: 5)
Mélanges de la Casa de Velázquez     Partially Free   (Followers: 1)
Memory Studies     Hybrid Journal   (Followers: 33)
Mens : revue d'histoire intellectuelle et culturelle     Full-text available via subscription  
Messages, Sages and Ages     Open Access  
Mind and Matter     Full-text available via subscription   (Followers: 3)
Mneme - Revista de Humanidades     Open Access  
Modern Italy     Hybrid Journal   (Followers: 7)
Motivation Science     Full-text available via subscription   (Followers: 1)
Mouseion     Open Access   (Followers: 1)
Mouseion: Journal of the Classical Association of Canada     Full-text available via subscription   (Followers: 11)
Museum International Edition Francaise     Hybrid Journal   (Followers: 4)
National Academy Science Letters     Hybrid Journal   (Followers: 5)
Nationalities Papers     Hybrid Journal   (Followers: 7)
Natures Sciences Sociétés     Full-text available via subscription  
Neophilologus     Hybrid Journal   (Followers: 8)
New German Critique     Full-text available via subscription   (Followers: 12)
New West Indian Guide     Open Access   (Followers: 1)
nonsite.org     Full-text available via subscription   (Followers: 3)
Northeast African Studies     Full-text available via subscription   (Followers: 3)

        1 2     

Journal Cover Congenital Anomalies
  [SJR: 0.352]   [H-I: 23]   [1 followers]  Follow
    
   Hybrid Journal Hybrid journal (It can contain Open Access articles)
   ISSN (Print) 0914-3505 - ISSN (Online) 1741-4520
   Published by John Wiley and Sons Homepage  [1583 journals]
  • The Nutritional Role of Folate
    • Authors: Shuhei Ebara
      Abstract: Folate functions as a coenzyme to transfer one-carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring. It has also been recommended that folate be consumed in the diet to promote the maintenance of good health. To reduce the risk of NTDs, supplementation with folic acid (a synthetic form of folate) during the periconceptional period has also been recommended. This paper describes the basic features and nutritional role of folate.
      PubDate: 2017-06-11T22:40:25.320731-05:
      DOI: 10.1111/cga.12233
       
  • Genetic polymorphisms and folate status
    • Authors: Mami Hiraoka; Yasuo Kagawa
      Abstract: Moderate hyperhomocysteinemia-induced low folate status is an independent risk factor for cardiovascular disease, dementia, and depression. Folate is an essential cofactor in the one-carbon metabolism pathway and is necessary in amino acid metabolism, purine and thymidylate synthesis, and DNA methylation. In the folate cycle and homocysteine metabolism, folate, vitamin B12, vitamin B6, and vitamin B2 are important cofactors. Many enzymes are involved in folate transport and uptake, the folate pathway, and homocysteine (Hcy) metabolism, and various polymorphisms have been documented in these enzymes. Serum folate and total Hcy (tHcy) levels are influenced by folate intake and genetic polymorphisms in 5,10-methylenetertahydrofolate reductase (MTHFR) such as C677T. The prevalence of the MTHFR 677TT genotype varies across ethnic groups and regions, with a frequency of approximately 15% in Japanese populations. Individuals with the TT genotype have significantly higher tHcy levels and lower folate levels in serum than those with the CT and TT genotypes. However, administration of folic acid has been shown to eliminate these differences. Moreover, data have suggested that interventions based on genotype may be effective for motivating individuals to change their lifestyle and improve their nutrition status. Accordingly, in this review, we discuss the effects of MTHFR C677T polymorphisms on serum tHcy and folate levels with folic acid intervention and evaluate approaches for overcoming folic acid deficiency and related symptoms.
      PubDate: 2017-06-09T08:45:20.136181-05:
      DOI: 10.1111/cga.12232
       
  • Three-dimensional models of the segmented human fetal brain generated by
           magnetic resonance imaging
    • Authors: Yutaka Yamaguchi; Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada
      Abstract: Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three-dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5.2 to 225 mm in crown rump length) were used to reconstruct 3D models of regionalized developing brains. From this analysis, we succeeded in registering a maximum of nine landmarks on MR images and reconstructing 19 sequential models of the regionalized developing brain. To confirm the validity of the landmarks, we also compared our results with three serial sections from the Kyoto Collection; the same morphological characteristics were observed on both serial sections and MRI. The morphological minutiae could be found on MR images, and regionalized models of the developing brain could be reconstructed. These results will be useful for clinical diagnosis of living fetuses in utero.
      PubDate: 2017-05-11T05:55:40.740154-05:
      DOI: 10.1111/cga.12229
       
  • Effects of environmental enrichment on the activity of the amygdala in
           micrencephalic rats exposed to a novel open field
    • Authors: Wakoto Matsuda; Ayuka Ehara, Kazuhiko Nakadate, Kanji Yoshimoto, Shuichi Ueda
      Abstract: Environmental enrichment (EE) mediates recovery from sensory, motor, and cognitive deficits and emotional abnormalities. In the present study, we examined the effects of EE on locomotor activity and neuronal activity in the amygdala in control and methylazoxymethanol acetate (MAM)-induced micrencephalic rats after challenge in a novel open field. Control rats housed in EE (CR) showed reduced locomotor activity compared to rats housed in a conventional cage (CC), whereas hyperactivity was seen in MAM rats housed in a conventional cage (MC) and in MAM rats housed in EE (MR).Novel open field exposure in both CC and MC resulted in a marked increase in Fos expression in the anterior and posterior parts of the basolateral amygdaloid nucleus, basomedial nucleus, and medial nucleus, whereas these increases in expression were not observed in CR. The effect of EE on Fos expression in the amygdala was different in MR exposed to a novel open field compared to CR. Furthermore, we observed a quite different pattern of Fos expression in the central nucleus of the amygdala between control and MAM rats. The present results suggest that neuronal activity in the amygdala that responds to anxiety is altered in MAM rats, especially when the rats are reared in EE. These alterations may cause behavioral differences between control and MAM rats.
      PubDate: 2017-05-02T13:35:27.35716-05:0
      DOI: 10.1111/cga.12228
       
  • Neural Tube Defects: Risk Factors and Preventive Measures
    • Authors: Atsuo Kondo; Takuya Matsuo, Nobuhito Morota, Atsuya S. Kondo, Ikuyo Okai, Hiromi Fukuda
      Abstract: For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, which has resulted in a significant reduction in the prevalence of neural tube defects. In 2000, the Japanese government recommended folic acid 400 µg daily for young women of childbearing age and women who are planning to conceive. In 2002, the government started to present information about the importance of folic acid in the development of fetuses in the Mother-Child Health Booklet annually. Despite these endeavors, the prevalence of neural tube defects has remained unchanged. We discuss the risk factors of neural tube defects and propose preventive measures to decrease the number of neonates with neural tube defects. We believe that the government should implement the fortification of staple food with folic acid very soon, which will eventually decrease not only the neonatal mortality and morbidity, but also the economic burden on our health care system.
      PubDate: 2017-04-19T20:33:58.365602-05:
      DOI: 10.1111/cga.12227
       
  • Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal
           recessive woolly hair/hypotrichosis in consanguineous families
    • Authors: Farooq Ahmad; Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
      Abstract: Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the LPAR6 gene revealed a novel homozygous frameshift variant (c.68_69dupGCAT; p.Phe24Hisfs*29) and a previously reported missense variant (c.188A > T; p.Asp63Val), respectively. Taken together, our findings will expand the spectrum of variants reported in the LIPH and LPAR6 genes.
      PubDate: 2017-04-19T20:04:25.348533-05:
      DOI: 10.1111/cga.12226
       
  • Whole exome sequencing identified a novel single base pair insertion
           mutation in the EYS gene in a six generation family with retinitis
           pigmentosa
    • Authors: Jamil Amjad Hashmi; Maan Abdullah Albarry, Ahmed Almatrafi, Alia M. Albalawi, Amir Mehmood, Sulman Basit
      Abstract: Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expand the mutation spectrum of EYS gene in RP patients and extend the body of evidence that supports the importance of EYS gene in eye development.
      PubDate: 2017-04-16T22:55:44.464712-05:
      DOI: 10.1111/cga.12225
       
  • Survey on awareness of folic acid recognition and intake by female
           students
    • Authors: Takuya Matsuo; Yukiko Kagohashi, Yasuko Senga, Hiromi Fukuda, Keiko Shinozaki, Kumiko Takemori, Hiroki Otani, Atsuo Kondo
      Abstract: To reduce the risk of neural tube defects, studies have been conducted on female students of medical services, nutritional science, and nursery education that investigated the awareness of folic acid by using questionnaires. Many investigators have suggested the need to provide detailed information about the awareness of folic acid and knowledge about folic acid intake and neural tube defect risk reduction. The dietary habits of female students showed a positive correlation with their estimated folic acid intake, suggesting that improvements in dietary habits are associated with the consumption of folic acid. The importance of folic acid intake must be more aggressively promoted among female students. Thus, many learning opportunities should be provided for such students to help increase their folic acid intake.
      PubDate: 2017-04-05T02:05:40.423906-05:
      DOI: 10.1111/cga.12224
       
  • A prospective study on fetal posterior cranial fossa assessment for early
           detection of open spina bifida at 11-13 weeks
    • Authors: Semir Kose; Sabahattin Altunyurt, Pembe Keskinoglu
      Abstract: To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and the non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt.
      PubDate: 2017-04-05T00:40:19.91058-05:0
      DOI: 10.1111/cga.12223
       
  • Medical cost savings in Sakado City and worldwide achieved by preventing
           disease by folic acid fortification
    • Authors: Yasuo Kagawa; Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto
      Abstract: The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost saving of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost-effectiveness analysis showed a gain of 266 649 quality-adjusted life-years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction. The recommended folate intake in Japan is 240 μg/day whereas it is 400 μg/day internationally. Our Sakado Folate Project targeted individuals with genetic polymorphism of methylenetetrahydrofolate reductase or with hyperhomocysteinemia. Using, for example, folate-fortified rice, resulted in an increase in serum folate and a decrease in serum homocysteine in the participants, and reduced medical costs were achieved by decreasing myocardial infarction, stroke, dementia and fracture. Due to the small population of Sakado City (approximately 101 000) and small number of births (693) in 2015, a decrease in spina bifida could not be confirmed but there was a significant decrease in the number of very low birthweight infants. The genome notification of subjects was effective in motivating intake of folate, but the increase in serum folate (from 17.4 to 22.5 nmol/L, 129%) was less than that observed following compulsory folic acid fortification of cereals in the USA (from 12.1 to 30.2 nmol/L, 149.6%). Mandatory folic acid fortification is cheap in decreasing medical costs and is thus recommended in Japan.
      PubDate: 2017-04-04T21:50:31.888107-05:
      DOI: 10.1111/cga.12215
       
  • A 10q21.3q22.2 microdeletion identified in a patient with severe
           developmental delay and multiple congenital anomalies including congenital
           heart defects
    • Authors: Keiko Shimojima; Nobuhiko Okamoto, Toshiyuki Yamamoto
      Abstract: Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient.
      PubDate: 2017-04-04T20:45:31.337868-05:
      DOI: 10.1111/cga.12221
       
  • Hearing impairment in a female infant with interstitial deletion of
           2q24.1q24.3
    • Authors: Hiroaki Ono; Kenji Kurosawa, Nobuaki Wakamatsu, Shin Masuda
      Abstract: Patients with interstitial deletions in 2q24.1q24.3 are rarely reported. These patients manifest a variety of clinical features in addition to intellectual disability, depending on the size and location of the deletion. We report a female patient with interstitial deletion of 5.5 Mb in 2q24.1q24.3, who showed intrauterine growth retardation, hypotonia, global developmental delay, microcephaly, and characteristic facial appearance. In addition, she had hearing impairment, with no auditory brainstem response. Case of 2q24.1q24.3 deletion with hearing impairment is quite rare. We suspect that hearing impairment is caused by bilateral cochlear nerve deficiency due to cochlear nerve canal stenosis. Further studies are necessary to evaluate hearing impairment as a clinical feature in patients with de novo heterozygous 2q24.1q24.3 deletion.
      PubDate: 2017-03-30T22:05:31.247789-05:
      DOI: 10.1111/cga.12207
       
  • Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison
           syndrome in a consanguineous family from Saudi Arabia
    • Authors: Jumana Yousuf Al-Aama; Hams Saeed Al-Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed
      PubDate: 2017-03-29T02:30:24.903859-05:
      DOI: 10.1111/cga.12217
       
  • Regional difference in sulcal infolding progression correlated with
           cerebral cortical expansion in cynomolgus monkey fetuses
    • Authors: Kazuhiko Sawada; Katsuhiro Fukunishi, Masatoshi Kashima, Noritaka Imai, Shigeyoshi Saito, Ichio Aoki, Yoshihiro Fukui
      Abstract: The present study aimed to specify the cerebral sulci developed by cortical expansion in cynomolgus monkey fetuses. The degree of sulcal infolding was evaluated by the gyrification index (GI), which was quantified using ex vivo magnetic resonance imaging. The correlation of cortical volume with the sulcal GI was most frequent during embryonic days (EDs) 100 to 120. Interestingly, the high correlation was marked during EDs 140 to 150 in restricted primary sulci in prefrontal, parietotemporal and medial temporal regions. The present results suggest that cortical expansion is involved in gyral demarcation by sulcal infolding, followed by the sulcal infolding progression in phylogenetically-newer cortices.
      PubDate: 2017-03-28T00:50:23.17859-05:0
      DOI: 10.1111/cga.12209
       
  • Surgical strategy for Apert syndrome: Retrospective study of developmental
           quotient and three-dimensional computerized tomography
    • Authors: Shoichi Tomita; Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura
      Abstract: There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome. From January 2002 to December 2011, 13 patients with Apert syndrome were operated and were followed up for more than five years. Nine patients underwent operations before 1 year of age (early surgery group) and 3 patients underwent operations later in life (late surgery group). They underwent fronto-orbital advancement for primary surgery. We evaluated post-operative developmental quotient every year and cephalic index (CI) measured by three-dimensional computerized tomography (3D-CT) at the age over 5 years retrospectively. Eleven of 13 patients improved their developmental quotient scores, with no significant intergroup differences. The CI evaluation showed cases with remnant brachycephalic deformity in both groups. Two patients with remnant plagiocephalic deformities tend to have primary surgery early in life compared to the others. Thus the delay in primary surgery had little influence on psychological development. We conclude that the primary surgery can be delayed unless the intracranial pressure needs to be controlled. In addition, fronto-orbital advancement could not sufficiently improve the brachycephalic appearance, other procedures like posterior vault distraction might be better alternatives.
      PubDate: 2017-03-24T06:15:28.892026-05:
      DOI: 10.1111/cga.12222
       
  • Patient with a novel purine-rich element binding protein A mutation
    • Authors: Nobuhiko Okamoto; Hideto Nakao, Tetsuya Niihori, Yoko Aoki
      Abstract: There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.
      PubDate: 2017-03-24T01:25:39.20142-05:0
      DOI: 10.1111/cga.12214
       
  • Neurological manifestations of 2q31 microdeletion syndrome
    • Authors: Nobuhiko Okamoto; Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto
      Abstract: Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability. Magnetic resonance imaging showed delayed myelination and low signal intensity in the basal ganglia. The ZNF385B is a zinc finger protein expressed in brain. Disruption of ZNF385B was suspected to be responsible for the neurological features of this syndrome.
      PubDate: 2017-03-24T01:15:30.283468-05:
      DOI: 10.1111/cga.12212
       
  • Co-occurrence of bronchial atresia and intrapulmonary sequestration in
           divergent lobes
    • Authors: Nilgün Kanlıoğlu Kuman; Serdar Şen
      PubDate: 2017-03-24T00:55:31.469344-05:
      DOI: 10.1111/cga.12208
       
  • Changeability of the fully methylated status of the 15q11.2 region in
           induced pluripotent stem cells derived from a patient with Prader-Willi
           syndrome
    • Authors: Hironobu Okuno; Kazuhiko Nakabayashi, Kousei Abe, Takayuki Ando, Tsukasa Sanosaka, Jun Kohyama, Wado Akamatsu, Manabu Ohyama, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
      Abstract: Prader-Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS-imprinting control region in chromosome 15q11.2, subject to parent-of-origin-specific methylation and controlling the parent-of-origin-specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus. The genome-wide methylation status dramatically changes during the reprograming of somatic cells into induced pluripotent stem cells (iPSCs) and during the in vitro culture of iPSCs. Here, we tested the methylation status of the chromosome 15q11.2 region in iPSCs from a PWS patient using pyrosequencing and a more detailed method of genome-wide DNA methylation profiling to reveal whether iPSCs with a partially unmethylated status for the chromosome 15q11.2 region exhibit global methylation aberrations. As a result, we were able to show that a fully methylated status for chromosome 15q11.2 in a PWS patient could be reversed to a partially unmethylated status in at least some of the PWS-iPSC lines. Genome-wide DNA methylation profiling revealed that the partial unmethylation occurred at differentially methylated regions located in chromosome 15q11.2, but not at other differentially methylated regions associated with genome imprinting. The present data potentially opens a door to cell-based therapy for PWS patients and, possibly, patients with other disorders associated with genomic imprinting.
      PubDate: 2017-03-22T22:26:10.459606-05:
      DOI: 10.1111/cga.12206
       
  • Undernourishment in utero and hepatic steatosis in later life: A potential
           issue in Japanese people
    • Authors: Hiroaki Itoh; Keiko Muramatsu-Kato, Urmi J. Ferdous, Yukiko Kohmura-Kobayashi, Naohiro Kanayama
      Abstract: Nonalcoholic fatty liver disease (NAFLD) is a hepatic manifestation of metabolic syndrome. The prevalence of NAFLD in Japan has nearly doubled in the last 10–15 years. Increasing evidence supports undernourishment in utero being causatively connected with the risk of NAFLD in later life. Low body mass index (BMI) has been common among Japanese women of childbearing age for several decades due to their strong desire to be thin. It is plausible that insufficient maternal energy intake by pregnant Japanese women may underlie the rapid increase in the prevalence of NAFLD in Japan. In order to clarify the mechanisms by which undernourishment in utero primes adult hepatic steatosis, we developed a mouse model of fetal undernourishment with a hepatic fat deposit-prone phenotype on an obesogenic high fat diet in later life. We found that endoplasmic reticulum (ER) stress response parameters were activated concomitantly with the deterioration of hepatic steatosis and also that the alleviation of ER stress with the chemical chaperone, tauroursodeoxycholic acid (TUDCA), significantly improved hepatic steatosis. Therefore, undernourishment in utero may program the future integration of ER stress in the liver on an obesogenic diet in later life and also induce the deterioration of hepatic steatosis. These results also provide an insight into interventions for the potential high-risk population of NAFLD, such as those born small or exposed to maternal undernourishment during the fetal period, with the alleviation of ER stress by dietary supplements and/or specific food including chaperones.
      PubDate: 2017-03-22T21:40:36.226295-05:
      DOI: 10.1111/cga.12200
       
  • Possible genes responsible for developmental delay observed in patients
           with rare 2q23q24 microdeletion syndrome: Literature review and
           description of an additional patient
    • Authors: Keiko Shimojima; Nobuhiko Okamoto, Toshiyuki Yamamoto
      Abstract: Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype–phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2. Previously reported chromosomal translocation and the mutation identified in GPD2 suggested that this gene would be responsible for the developmental delay. Re-evaluation for the critical region for behavior abnormalities commonly observed in the patients with overlapping deletions of this region suggested that KCNJ3 rather than GALNT13 may be responsible for abnormal behaviors, although there was phenotypic variability. Combinatory deletions involving KCNJ3 and GPD2 may lead to more severe developmental delay. Further studies would be necessary to establish clearer genotype–phenotype correlation in patients with 2q23q24 microdeletion syndrome.
      PubDate: 2017-03-22T21:30:29.009465-05:
      DOI: 10.1111/cga.12205
       
  • A novel FBN1 mutation in a family with inherited Marfan Syndrome:
           p.Cys2672Arg
    • Authors: Arda Cetinkaya; Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz
      PubDate: 2017-03-20T19:16:51.211563-05:
      DOI: 10.1111/cga.12220
       
  • Neural tube closure and embryonic metabolism
    • Authors: Yoshifumi Yamaguchi; Hidenobu Miyazawa, Masayuki Miura
      Abstract: Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients. Although effects of these stress factors on NTC have been intensively studied, the metabolic state of a normally developing embryo remains unclear. State-of-the art mass spectrometry techniques have enabled detailed study of embryonic metabolite profiles and their distribution within tissues. This approach has demonstrated that glucose metabolism is altered during NTC stages involving chorioallantoic branching. An understanding of embryonic metabolic rewiring would help reveal the etiology of NTD caused by environmental factors.
      PubDate: 2017-03-13T13:30:24.548859-05:
      DOI: 10.1111/cga.12219
       
  • Folate receptors and neural tube closure
    • Authors: Hirotomo Saitsu
      Abstract: Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5–8/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure. Therefore, we examined spatial and temporal expression patterns of Folr1 in developing mouse embryos, showing a close association between Folr1 and anterior neural tube closure. Transient transgenic analysis was performed using lacZ as a reporter; we identified a 1.1-kb enhancer that directs lacZ expression in the neural tube and optic vesicle in a manner that is similar to endogenous Folr1. The 1.1-kb enhancer sequences were highly conserved between humans and mice, suggesting that human FOLR1 is associated with anterior neural tube closure in humans. Several experimental studies in mice and human epidemiological and genetics studies have suggested that folate receptor abnormalities are involved in a portion of human NTDs, although the solo defect of FOLR1 did not cause NTD.
      PubDate: 2017-02-28T02:20:56.336804-05:
      DOI: 10.1111/cga.12218
       
  • A contiguous gene deletion neighboring TWIST1 identified in a patient with
           Saethre-Chotzen syndrome associated with neurodevelopmental delay:
           possible contribution of HDAC9
    • Authors: Hiroko Shimbo; Tatsuki Oyoshi, Kenji Kurosawa
      Abstract: Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.Haploinsufficiency of TWIST1, a basic helix–loop–helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included. In comparison with previously reported patients, HDAC9 was suggested to contribute to developmental delay in SCS patients with 7p21 mirodeletions.
      PubDate: 2017-02-21T02:50:23.350442-05:
      DOI: 10.1111/cga.12216
       
  • Relationship between epigenetic regulation, dietary habits, and the
           Developmental Origins of Health and Disease theory
    • Authors: Kazuki Mochizuki; Natsuyo Hariya, Kazue Honma, Toshinao Goda
      Abstract: Environmental stressors during developmental stages are hypothesized to increase the risk of developing metabolic diseases such as obesity, type 2 diabetes, hypertension, and psychiatric diseases during later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD). Recent studies suggest that accumulation of environmental stress, including during developmental stages, is internalized as acquired information designated as “epigenetic memory.” This epigenetic memory is generally indicated as DNA methylation and histone modifications in the chromatin. In general, the demethylation of CpG islands induces histone acetylation and associated changes from heterochromatin to euchromatin, and enhances transcriptional activation. These changes are induced by the binding of transcriptional factors to cis-elements located on promoter and enhancer regions and the associated binding of histone acetyl-transferase and the transcription initiation complex. Recent studies have demonstrated novel epigenetic modifications that regulate transcription elongation steps by activating histone acetylation and bromodomain-containing protein 4, which contains two bromodomains to bind acetylated histones, on the gene body (transcribed region). Gene expression alterations induced by carbohydrate signals and by changes to energy balance in the body are regulated by this model. In addition, induction of many metabolic genes, which are induced or reduced in adulthood by malnutrition during developmental stages, by intake of major nutrients, or development of lifestyle diseases in adulthood, are targeted by these novel epigenetic changes. In the present review, we introduce epigenetic regulations and the relationship with nutrient intake, and discuss links between epigenetic regulation and the development of metabolic diseases according to DOHaD.
      PubDate: 2017-02-07T06:35:32.726042-05:
      DOI: 10.1111/cga.12213
       
  • Issue Information
    • Pages: 69 - 71
      PubDate: 2017-04-24T03:17:48.952271-05:
      DOI: 10.1111/cga.12183
       
  • Bilateral choanal atresia in an adult woman with pycnodysostosis
    • Authors: Ceren Damla Durmaz; Vedat Taş, Pınar Kocaay, Omer Suat Fitöz, Hüseyin Onay, Süha Beton, Ferda Özkınay, Hatice Ilgın Ruhi
      PubDate: 2016-12-09T02:40:31.738266-05:
      DOI: 10.1111/cga.12204
       
  • Selective serotonin reuptake inhibitors and risk of major congenital
           anomalies for pregnancies in Japan. A nationwide birth cohort study of the
           Japan Environment and Children's Study
    • Authors: Hidekazu Nishigori; Taku Obara, Toshie Nishigori, Satoshi Mizuno, Hirohito Metoki, Tetsuro Hoshiai, Zen Watanabe, Kasumi Sakurai, Mami Ishikuro, Nozomi Tatsuta, Ichiko Nishijima, Ikuma Fujiwara, Shinichi Kuriyama, Takahiro Arima, Kunihiko Nakai, Nobuo Yaegashi,
      Abstract: We analyzed data from the Japan Environment and Children's Study (JECS), on the association between selective serotonin reuptake inhibitors (SSRI) use during pregnancy and the risk of developing of major congenital anomalies in Japan. JECS is an ongoing nationwide birth cohort study. The study includes 95,994 single pregnant women and their offspring. Among them172 used any SSRI up to the 12th gestational week. Crude analyses show a significantly increased incidence of upper limb, abdominal, and urogenital anomalies. In particular, the incidence of microcephaly hydrencephalus, esophageal atresia, small intestinal atresia, and achondroplasia was significantly higher with than without exposure to these substances. On multivariate analyses, urogenital abnormalities was significant (odd ratio 3.227; 95% confidence interval: 1.460-7.134). This Japanese nationwide birth cohort survey clarified that the use of any SSRI until 12th gestational week was associated with urogenital abnormalities in children; however, these were major classifications. The survey for association with minor classification abnormality needs further examinations in Japan. This article is protected by copyright. All rights reserved.
      PubDate: 2016-11-23T00:30:24.59205-05:0
      DOI: 10.1111/cga.12202
       
  • Patterns and risk factors of birth defects in rural areas of south-eastern
           Gabon
    • Authors: Landry-Erik Mombo; Leslie-Monica Yangawagou-Eyeghe, Patrick Mickala, Jean Moutélé, Thierno-Souleymane Bah, Damehan Tchelougou, Cyrille Bisseye
      Abstract: Within the context of high neonatal mortality in sub-Saharan Africa, a retrospective study was conducted on the prevalence of congenital malformations and the association between maternal risk factors and birth defects in rural populations of south-eastern Gabon. Two populations were studied: a group of 3,500 births recorded in rural area (Koula-Moutou) and a second group of 4,212 births in a semi-rural area (Franceville) in Gabon. Our data showed an increasing prevalence in congenital anomalies from rural to urban areas (p  35 years, multiparity and employment status were significantly associated with the levels of stillbirth. Together with abortions and stillbirths, congenital malformations require strong monitoring in rural and urban areas of sub-Saharan Africa.
      PubDate: 2016-11-16T18:23:53.781306-05:
      DOI: 10.1111/cga.12201
       
  • A Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome with
           a KAT6B 10-base pair palindromic duplication: a recurrent mutation causing
           a severe phenotype mixed with genitopatellar syndrome
    • Authors: Yo Niida; Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, Akiko Kato
      Abstract: The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype–phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS.
      PubDate: 2016-10-03T08:51:12.755375-05:
      DOI: 10.1111/cga.12196
       
  • Variable presentation of Fraser syndrome in two fetuses and a novel
           mutation in FRAS1
    • Authors: Shalini S. Nayak; Smrithi Salian, Anju Shukla, Mary Mathew, Katta M. Girisha
      Abstract: We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A > T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
      PubDate: 2016-09-14T04:55:36.016187-05:
      DOI: 10.1111/cga.12188
       
  • Remnant Cartilage in the Middle Ear
    • Authors: Jeon Mi Lee; Sung Huhn Kim, Jae Young Choi
      PubDate: 2016-07-20T05:55:25.070954-05:
      DOI: 10.1111/cga.12178
       
 
 
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