NMNAT1 mutations cause Leber congenital amaurosis.

doi:10.1038/ng.2361

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Article

NMNAT1 mutations cause Leber congenital amaurosis.

Nature genetics - 1 Sept 2012

Falk Marni J, Zhang Qi, Nakamaru-Ogiso Eiko, Kannabiran Chitra, Fonseca-Kelly Zoe, Chakarova Christina, Audo Isabelle, Mackay Donna S, Zeitz Christina, Borman Arundhati Dev, Staniszewska Magdalena, Shukla Rachna, Palavalli Lakshmi, Mohand-Said Saddek, Waseem Naushin H, Jalali Subhadra, Perin Juan C, Place Emily, Ostrovsky Julian, Xiao Rui, Bhattacharya Shomi S, Consugar Mark, Webster Andrew R, Sahel José-Alain, Moore Anthony T, Berson Eliot L, Liu Qin, Gai Xiaowu, Pierce Eric A

Abstract excerpt

Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 that is likely to be disease causing in two siblings...

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PMID: 22842227
DOI: 10.1038/ng.2361
PMCID: PMC3454532

Genes

NMNAT1

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NMNAT1 mutations cause Leber congenital amaurosis.PMID 22842227Read ↗

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.Semantic proximity Read ↗

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.Semantic proximity Read ↗

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Semantic proximity Read ↗

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.Semantic proximity Read ↗

Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.Semantic proximity Read ↗

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.Semantic proximity Read ↗

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.Semantic proximity Read ↗

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.Semantic proximity Read ↗

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.Semantic proximity Read ↗

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.Semantic proximity Read ↗

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