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Title: Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
Authors: 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.
Rassi Gabriel, Luis Alexandre
Cong, Peikuan
Chuang, KuangHsiang
Ye, Sheng
Sallum, Juliana Maria Ferraz [UNIFESP]
Qi, Ming
Beijing Genom Inst BGI Shenzhen
Casey Eye Inst
Zhejiang Univ
Womens & Childrens Hosp
Retina Fdn SW
SickKids Hosp
Oregon Hlth & Sci Univ
Universidade Federal de Goiás (UFG)
Univ Rochester
Universidade Federal de São Paulo (UNIFESP)
Issue Date: 1-Sep-2012
Publisher: Nature Publishing Group
Citation: Nature Genetics. New York: Nature Publishing Group, v. 44, n. 9, p. 972-974, 2012.
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.
ISSN: 1061-4036
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