Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
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ABSTRACT:
SUBMITTER: Esteve C
PROVIDER: S-EPMC5985364 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve Clothilde C Francescatto Ludmila L Tan Perciliz L PL Bourchany Aurélie A De Leusse Cécile C Marinier Evelyne E Blanchard Arnaud A Bourgeois Patrice P Brochier-Armanet Céline C Bruel Ange-Line AL Delarue Arnauld A Duffourd Yannis Y Ecochard-Dugelay Emmanuelle E Hery Géraldine G Huet Frédéric F Gauchez Philippe P Gonzales Emmanuel E Guettier-Bouttier Catherine C Komuta Mina M Lacoste Caroline C Maudinas Raphaelle R Mazodier Karin K Rimet Yves Y Rivière Jean-Baptiste JB Roquelaure Bertrand B Sigaudy Sabine S Stephenne Xavier X Thauvin-Robinet Christel C Thevenon Julien J Sarles Jacques J Levy Nicolas N Badens Catherine C Goulet Olivier O Hugot Jean-Pierre JP Katsanis Nicholas N Faivre Laurence L Fabre Alexandre A
American journal of human genetics 20180208 3
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. 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 ...[more]
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