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Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

Genetic testing and molecular biomarkers - 1 Jul 2016

Zhang Lin, Yang Yeming, Li Shujin, Tai Zhengfu, Huang Lulin, Liu Yuqing, Zhu Xiong, Di Yanan, Qu Chao, Jiang Zhilin, Li Yuanfeng, Zhang Guolin, Kim Ramasamy, Sundaresan Periasamy, Yang Zhenglin, Zhu Xianjun

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited retinal disorder characterized by incomplete retinal vascular development and neovascularization. At least five genes have been reported to be associated with FEVR, including NDP, LRP5, FZD4, TSPAN12, and ZNF408. Recently reported data showed that mutations in the KIF11 gene can also lead to FEVR conditions. Previous...

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Source

Identifiers

PMID: 27228167
DOI: 10.1089/gtmb.2015.0322

Genes

LRP5
FZD4
KIF11
NDP
TSPAN12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.PMID 27228167Read ↗

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

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.Semantic 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 ↗

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

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