Ontology highlight
ABSTRACT:
SUBMITTER: Falk MJ
PROVIDER: S-EPMC3454532 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20120729 9
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 that is likely to be disease causing in two siblings of a consanguineous Pakistani kindred affected by LCA. This mutation segregated with ...[more]