A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract |
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Authors: | Wang Jun Ma Xu Gu Feng Liu Ning-pu Hao Xiao-lin Wang Kai-jie Wang Ning-li Zhu Si-quan |
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Affiliation: | 1. Beijing Tongren Eye Center, Capital Medical University, Beijing 100730, China 2. Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China |
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Abstract: | BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. |
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Keywords: | congenital cataract microsatellite markers linkage analysis CRYBB1 |
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