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Updated: Jul 22, 2026
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Published on: November 19, 2011
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
Background:
Congenital or childhood cataract is clinically and genetically a highly heterogeneous lens disorder in children. Autosomal dominant inheritance is most common.
Objective:
To report the identification of a mutation in the human CRYGS gene.
Subjects And Methods:
A large six generation family affected by progressive polymorphic cortical cataract was investigated. After excluding loci for known cataract candidate genes using 39 fluorescent microsatellite markers, a whole genome scan was carried out.
Results:
The disease was associated with inheritance of a 20.7 cM locus on chromosome 3q26.3-qter, with a maximum LOD score of 6.34 (theta = 0) at marker D3S1602. Haplotype analysis indicated that the disease gene lay at approximately 2.8 Mb physical intervals between D3S1571 and D3S3570 and contained CRYGS on 3q27.3. By sequencing the CRYGS gene, a distinct 1619G-->T (AC068631) heterozygous missense mutation in exon 2 was identified, co-segregating with the disease phenotype in this family and resulting in a glycine (GGC) to valine residue (GTC) substitution in codon 18 (NP_060011).
Conclusions:
This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans.
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