Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A
العنوان: | Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A |
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المؤلفون: | C. Thauvin-Robinet, Hery G, Nicholas Katsanis, Aurélie Fabre, Ecochard-Dugelay E, De Leusse C, Y. Rimet, Ange-Line Bruel, Delarue A, P. Gauchez, Xavier Stéphenne, Patrice Bourgeois, R. Maudinas, Ludmila Francescatto, Céline Brochier-Armanet, Yannis Duffourd, Arnaud Blanchard, Marinier E, Laurence Faivre, Olivier Goulet, Perciliz L. Tan, Caroline Lacoste, J. Sarles, Jean-Pierre Hugot, Clothilde Esteve, K. Mazodier, Sabine Sigaudy, Emmanuel Gonzales, Aurélie Bourchany, Nicolas Lévy, C. Guettier-Bouttier, Catherine Badens, Frédéric Huet, Jean-Baptiste Rivière, Julien Thevenon, Bertrand Roquelaure, Mina Komuta |
بيانات النشر: | Cold Spring Harbor Laboratory, 2017. |
سنة النشر: | 2017 |
مصطلحات موضوعية: | Candidate gene, Cholestasis, In vivo, Concomitant, Myosin, Immunology, medicine, Cancer research, Biology, medicine.disease, Gene, Loss function, Exome sequencing |
الوصف: | Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing and bone fragility, a clinical entity we have termed O2HE (Osteo-Oto-Hepato-enteric) syndrome. Whole exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A), as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss of function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function. |
اللغة: | English |
DOI: | 10.1101/208942 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a945bf6d094774e2e1455ab27bb53b0 |
حقوق: | OPEN |
رقم الأكسشن: | edsair.doi.dedup.....8a945bf6d094774e2e1455ab27bb53b0 |
قاعدة البيانات: | OpenAIRE |
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