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Article

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

Journal of medical genetics - 1 Apr 2003

Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L

Abstract excerpt

Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the gamma-crystallin gene (CRYG) cluster. Sequencing of the coding regions of the...

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

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Source

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Identifiers

PMID: 12676897
DOI: 10.1136/jmg.40.4.262
PMCID: PMC1735438

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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Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.PMID 12676897Read ↗

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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.Semantic proximity Read ↗

Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.Semantic proximity Read ↗

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.Semantic proximity Read ↗

A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Semantic proximity Read ↗

Novel human CRYGD rare variant in a Brazilian family with congenital cataract.Semantic proximity Read ↗

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

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Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).Semantic proximity Read ↗

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.Semantic proximity Read ↗

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A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract.Semantic proximity Read ↗

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