Article
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
American journal of human genetics - 6 Feb 2014
Williamson Kathleen A, Rainger Joe, Floyd James A B, Ansari Morad, Meynert Alison, Aldridge Kishan V, Rainger Jacqueline K, Anderson Carl A, Moore Anthony T, Hurles Matthew E, Clarke Angus, van Heyningen Veronica, Verloes Alain, Taylor Martin S, Wilkie Andrew O M, Fitzpatrick David R
Abstract excerpt
Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c. 1066G>T [p.Glu356*]) in YAP1. The phenotypes of the affected families differed in that one included no extraocular features and the other manifested with highly variable multisystem involvement,...
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