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Article

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

Molecular vision - 17 Mar 2004

Mackay Donna S, Andley Usha P, Shiels Alan

Abstract excerpt

PURPOSE: Hereditary cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. The purpose of this study was to map and identify the mutation underlying an autosomal dominant form of coral-shaped cataract segregating in a three generation Caucasian pedigree. METHODS: Genomic DNA was prepared from blood leucocytes, genotyping was performed...

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Share to Chromosomes, Human, Pair 2
Share to Epithelial Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique, Indirect

Share to gamma-Crystallins

Share to Genes, Dominant

Share to Lens, Crystalline

Share to Microscopy, Immunoelectron

Source

Identifiers

PMID: 15041957

Genes

CRYGD
CRYGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.PMID 15041957Read ↗

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Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.Semantic proximity Read ↗

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Semantic proximity Read ↗

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