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Article

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

American journal of human genetics - 12 Feb 2010

Poulter James A, Ali Manir, Gilmour David F, Rice Aine, Kondo Hiroyuki, Hayashi Kenshi, Mackey David A, Kearns Lisa S, Ruddle Jonathan B, Craig Jamie E, Pierce Eric A, Downey Louise M, Mohamed Moin D, Markham Alexander F, Inglehearn Chris F, Toomes Carmel

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes (LRP5, FZD4, and NDP) are known to cause FEVR, these account for only a fraction of FEVR cases. The proteins encoded by these FEVR genes form part of a signaling complex that activates the Norrin-beta-catenin signaling pathway. Recently, through a large-scale reverse...

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Source

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Identifiers

PMID: 20159112
DOI: 10.1016/j.ajhg.2010.01.012
PMCID: PMC2820188

Genes

TSPAN12
FZD4
LRP5
NDP

Provenance

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Related research

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Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.PMID 20159112Read ↗

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Semantic proximity Read ↗

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).Semantic proximity Read ↗

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.Semantic proximity Read ↗

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Familial Exudative VitreoretinopathySemantic proximity Read ↗

Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.Semantic proximity Read ↗

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