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Article

Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.

Human molecular genetics - 15 Apr 2016

Wu Jeng-Hung, Liu Jorn-Hon, Ko Yu-Chieh, Wang Chi-Tang, Chung Yu-Chien, Chu Kuo-Chang, Liu Tze-Tze, Chao Hsiao-Ming, Jiang Yun-Jin, Chen Shih-Jen, Chung Ming-Yi

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two heterozygous frameshift mutations in RCBTB1 from three Taiwanese cases through exome sequencing. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26908610
DOI: 10.1093/hmg/ddw041

Genes

RCBTB1
FZD4
LRP5
NDP
TSPAN12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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