Nat Genet. 2012 Sep;44(9):972-974.

Pei-Wen Chiang, 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*

Abstarct

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.

全文链接：http://www.nature.com/ng/journal/v44/n9/full/ng.2370.html