Journal article
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
Journal of Medical Genetics, Vol.42(9), pp.706-710
2005
Abstract
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 (θ = 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.
Details
- Title
- Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
- Authors/Creators
- H Sun (Author/Creator) - Tianjin Medical University Eye HospitalZ. Ma (Author/Creator)Y. Li (Author/Creator)B. Lui (Author/Creator)Z. Li (Author/Creator)X. Ding (Author/Creator)Y. Gao (Author/Creator)W. Ma (Author/Creator)X. Tang (Author/Creator)X. Li (Author/Creator)Y. Shen (Author/Creator)
- Publication Details
- Journal of Medical Genetics, Vol.42(9), pp.706-710
- Publisher
- BMJ Group
- Identifiers
- 991005540086007891
- Copyright
- © 2005 BMJ Publishing Group Ltd.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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