1. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
- Author
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Chen Yang, Pei Wen Chiang, Xin Yi, Richard G. Weleber, Peikuan Cong, Joanne Sutherland, Elise Heon, Yanling Chen, Jing Zhong, Sheng Ye, Juan Wang, Christopher Barnett, Chen Yanhua, Megan A Day, Ming Qi, Renhua Wu, Quan Fu, Juliana Maria Ferraz Sallum, Yong Shi, Kuang-Hsiang Chuang, Dianna Wheaton, Luis Alexandre Rassi Gabriel, and Haixue Gan
- Subjects
Adult ,Male ,Adolescent ,Retinal dystrophy ,DNA Mutational Analysis ,Leber Congenital Amaurosis ,Biology ,Compound heterozygosity ,Cohort Studies ,Young Adult ,NMNAT1 ,Genetics ,Humans ,Exome ,Genetic Predisposition to Disease ,Nicotinamide-Nucleotide Adenylyltransferase ,Child ,Exome sequencing ,Infant ,Sequence Analysis, DNA ,Leber congenital amaurosis ,Child, Preschool ,Mutation ,Cancer research ,Female ,Axonal degeneration - 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.507GA, p.Trp169*) and missense (c.769GA, 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.
- Published
- 2011