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Article

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Eye (London, England) - 1 May 2018

Berry Vanita, Ionides Alexander C W, Pontikos Nikolas, Moghul Ismail, Moore Anthony T, Cheetham Michael E, Michaelides Michel

Abstract excerpt

PURPOSE: Congenital cataract, opacification of the ocular lens, is clinically and genetically a heterogeneous childhood disease. In this study we aimed to identify the underlying genetic cause of isolated autosomal-dominant lamellar cataract in a multi-generation English family. METHODS: Whole-genome sequencing (WGS) was undertaken in two affected subjects and one unaffected individual. Segregation analysis was...

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Share to Cataract
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Heterozygote

Share to Lens, Crystalline

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Source

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Identifiers

PMID: 29934635
DOI: 10.1038/s41433-018-0154-8
PMCID: PMC6189195

Genes

GJA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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