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Article

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2007

Beby Francis, Commeaux Claire, Bozon Muriel, Denis Philippe, Edery Patrick, Morlé Laurette

Abstract excerpt

OBJECTIVE: To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene. METHODS: We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15 known cataract loci. Exons 1, 2, and 3 and flanking intronic sequences of the CRYAA gene were amplified and...

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Source

Identifiers

PMID: 17296897
DOI: 10.1001/archopht.125.2.213

Genes

CRYAA

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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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