Exome Sequencing in Individuals with Isolated Biliary Atresia.

ABSTRACT: Biliary atresia (BA) is a severe pediatric liver disease resulting in necroinflammatory obliteration of the extrahepatic biliary tree. BA presents within the first few months of life as either an isolated finding or with additional syndromic features. The etiology of isolated BA is unknown, with evidence for infectious, environmental, and genetic risk factors described. However, to date, there are no definitive causal genes identified for isolated BA in humans, and the question of whether single gene defects play a major role remains open. We performed exome-sequencing in 101 North American patients of European descent with isolated BA (including 30 parent-child trios) and considered several experimental designs to identify potentially deleterious protein-altering variants that may be invo

SUBMITTER: Rajagopalan R 

PROVIDER: S-EPMC7026070 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature