A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 820-824, 2007.
Article
in English
| WPRIM
| ID: wpr-240324
ABSTRACT
<p><b>BACKGROUND</b>Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.</p><p><b>METHODS</b>Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package (ver 5.1). Candidate genes were amplified by polymerase chain reaction (PCR) and direct cycle sequencing.</p><p><b>RESULTS</b>The maximum Lod score of Zmax-2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction theta=0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the beta-crystallin gene cluster. A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.</p><p><b>CONCLUSIONS</b>This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cataract
/
Molecular Sequence Data
/
Amino Acid Sequence
/
Mutation, Missense
/
Beta-Crystallin B Chain
/
Genes, Dominant
/
Genetics
/
Genetic Linkage
Type of study:
Etiology study
/
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Chinese Medical Journal
Year:
2007
Type:
Article
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