Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family |
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Authors: | Guohua Yang Shan Zhong Xianrong Zhang Biwen Peng Jun Li Tie Ke Hua Xu |
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Affiliation: | 1. Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China;Department of Medical Genetics, School of Medical Science, Wuhan University, Wuhan 430071, China 2. Department of Medical Genetics, School of Medical Science, Wuhan University, Wuhan 430071, China 3. Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China 4. Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China |
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Abstract: | Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract
was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations
in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein
LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated
to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital
cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family
members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried
out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential
candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified.
A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were
found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was
concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening
will be carried out in the next study. |
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Keywords: | cataract late-onset gene sequencing mutation |
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