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Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

Abstract：

:Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all FEVR-affected case subjects do not harbor mutations in these genes, indicating that further mutated genes remain to be identified. Here we report the identification of mutations in CTNNB1, the gene encoding β-catenin, as a cause of FEVR. We describe heterozygous mutations (c.2142_2157dup [p.His720∗] and c.2128C>T [p.Arg710Cys]) in two dominant FEVR-affected families and a de novo mutation (c.1434_1435insC [p.Glu479Argfs∗18]) in a simplex case subject. Previous studies have reported heterozygous de novo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectrum disorder, and somatic mutations are linked to many cancers. However, in this study we show that Mendelian inherited CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndromic ID phenotype, further establishing the role that β-catenin signaling plays in the development of the retinal vasculature.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Panagiotou ES,Sanjurjo Soriano C,Poulter JA,Lord EC,Dzulova D,Kondo H,Hiyoshi A,Chung BH,Chu YW,Lai CHY,Tafoya ME,Karjosukarso D,Collin RWJ,Topping J,Downey LM,Ali M,Inglehearn CF,Toomes C

doi

10.1016/j.ajhg.2017.05.001

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

960-968

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(17)30188-X

journal_volume

100

pub_type

杂志文章

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