| Literature DB >> 22842231 |
Pei-Wen Chiang1, Juan Wang, Yang Chen, Quan Fu, Jing Zhong, Yanhua Chen, Xin Yi, Renhua Wu, Haixue Gan, Yong Shi, Yanling Chen, Christopher Barnett, Dianna Wheaton, Megan Day, Joanne Sutherland, Elise Heon, Richard G Weleber, Luis Alexandre Rassi Gabriel, Peikuan Cong, KuangHsiang Chuang, Sheng Ye, Juliana Maria Ferraz Sallum, Ming Qi.
Abstract
Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G>A, p.Trp169*) and missense (c.769G>A, p.Glu257Lys) mutations in NMNAT1, which encodes an enzyme in the nicotinamide adenine dinucleotide (NAD) biosynthesis pathway implicated in protection against axonal degeneration. We also found NMNAT1 mutations in ten other individuals with LCA, all of whom carry the p.Glu257Lys variant.Entities:
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Year: 2012 PMID： 22842231 DOI： 10.1038/ng.2370
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330