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Article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

American journal of human genetics - 12 Feb 2010

Nikopoulos Konstantinos, Gilissen Christian, Hoischen Alexander, van Nouhuys C Erik, Boonstra F Nienke, Blokland Ellen A W, Arts Peer, Wieskamp Nienke, Strom Tim M, Ayuso Carmen, Tilanus Mauk A D, Bouwhuis Sanne, Mukhopadhyay Arijit, Scheffer Hans, Hoefsloot Lies H, Veltman Joris A, Cremers Frans P M, Collin Rob W J

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied by retinal detachment. To date, mutations in three genes (FZD4, LRP5, and NDP) have been shown to be causative for FEVR. In two large Dutch pedigrees segregating autosomal-dominant FEVR, genome-wide SNP analysis identified an FEVR locus...

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Source

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Identifiers

PMID: 20159111
DOI: 10.1016/j.ajhg.2009.12.016
PMCID: PMC2820179

Genes

TSPAN12
FZD4
LRP5
NDP

Provenance

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Related research

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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.PMID 20159111Read ↗

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.Semantic proximity Read ↗

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

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.Semantic proximity Read ↗

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.Semantic proximity Read ↗

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

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

Whole Exome Sequencing Revealed Three Novel Variants in TSPAN12 and LRP5 Genes for Two Families with Familial Exudative VitreoretinopathySemantic proximity Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.Semantic proximity Read ↗

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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