Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

Casey Eye Institute Molecular Diagnostic Laboratory, Portland, Oregon, USA.
Nature Genetics (Impact Factor: 29.65). 07/2012; 44(9):972-4. DOI: 10.1038/ng.2370
Source: PubMed

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.


Available from: Richard Weleber, Jul 03, 2014
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