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Article

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.

PloS one - 1 Jan 2014

Zhu Yanan, Yu Hao, Wang Wei, Gong Xiaohua, Yao Ke

Abstract excerpt

PURPOSE: To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts. METHODS: Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were...

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Source

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Identifiers

PMID: 25517998
DOI: 10.1371/journal.pone.0115406
PMCID: PMC4269439

Genes

GJA8

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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