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Article

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

Human genomics - 18 Nov 2014

Mackay Donna S, Bennett Thomas M, Culican Susan M, Shiels Alan

Abstract excerpt

BACKGROUND: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we have utilized trio-based whole exome sequencing to discover mutations in candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25403472
DOI: 10.1186/s40246-014-0019-6
PMCID: PMC4240822

Genes

CRYGD
GJA8

Variants

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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