Article
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Nature genetics - 1 Sept 2012
Chiang Pei-Wen, Wang Juan, Chen Yang, Fu Quan, Zhong Jing, Chen Yanhua, Yi Xin, Wu Renhua, Gan Haixue, Shi Yong, Chen Yanling, Barnett Christopher, Wheaton Dianna, Day Megan, Sutherland Joanne, Heon Elise, Weleber Richard G, Gabriel Luis Alexandre Rassi, Cong Peikuan, Chuang KuangHsiang, Ye Sheng, Sallum Juliana Maria Ferraz, Qi Ming
Abstract excerpt
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...
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