title: Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
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.
authors: Casey Eye Institute Molecular Diagnostic Laboratory, Portland, Oregon, USA.
authors: Pei-Wen
authors: PW
authors: Chiang
authors: Juan
authors: J
authors: Wang
authors: Yang
authors: Y
authors: Chen
authors: Quan
authors: Q
authors: Fu
authors: Jing
authors: J
authors: Zhong
authors: Yanhua
authors: Y
authors: Chen
authors: Xin
authors: X
authors: Yi
authors: Renhua
authors: R
authors: Wu
authors: Haixue
authors: H
authors: Gan
authors: Yong
authors: Y
authors: Shi
authors: Yanling
authors: Y
authors: Chen
authors: Christopher
authors: C
authors: Barnett
authors: Dianna
authors: D
authors: Wheaton
authors: Megan
authors: M
authors: Day
authors: Joanne
authors: J
authors: Sutherland
authors: Elise
authors: E
authors: Heon
authors: Richard G
authors: RG
authors: Weleber
authors: Luis Alexandre Rassi
authors: LA
authors: Gabriel
authors: Peikuan
authors: P
authors: Cong
authors: KuangHsiang
authors: K
authors: Chuang
authors: Sheng
authors: S
authors: Ye
authors: Juliana Maria Ferraz
authors: JM
authors: Sallum
authors: Ming
authors: M
authors: Qi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D057130:Leber Congenital Amaurosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000502:physiology; D009612:Nicotinamide-Nucleotide Adenylyltransferase / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: C484007:NMNAT1 protein, human; D009612:Nicotinamide-Nucleotide Adenylyltransferase