Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2008
[A novel missense mutation in MIP gene resulted in polymorphic cataract].
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Lin Hui, Wang Li, Zhou Nan, Su Hong, Gu Jingzhi, Qi Yanhua
Аннотация
OBJECTIVE: To map the disease locus for a congenital cataract family, and detect the disease-causing gene.
METHODS: An autosomal dominant congenital cataract family was genotyped by genome wide scan using 382 autosomal microsatellite markers from ABI-MD10. Two-point linkage analysis was carried out by the MLINK program.
RESULTS: The disease locus of this family was mapped at 12p11.2-q15. Sequence analysis of a candidate gene-major intrinsic protein (MIP) revealed a novel missense mutation G-->A at the nucleotide 702 in exon 4, which resulted in a substitution of arginine to lysine at codon 233 (p.R233K).
CONCLUSION: The mutation G-->A at nt702 in MIP gene was associated with the binocular polymorphic congenital cataract in the family. This transition occurring at the C-terminus of MIP might decrease the stability of the C-end of the protein and impact the function of the protein.
METHODS: An autosomal dominant congenital cataract family was genotyped by genome wide scan using 382 autosomal microsatellite markers from ABI-MD10. Two-point linkage analysis was carried out by the MLINK program.
RESULTS: The disease locus of this family was mapped at 12p11.2-q15. Sequence analysis of a candidate gene-major intrinsic protein (MIP) revealed a novel missense mutation G-->A at the nucleotide 702 in exon 4, which resulted in a substitution of arginine to lysine at codon 233 (p.R233K).
CONCLUSION: The mutation G-->A at nt702 in MIP gene was associated with the binocular polymorphic congenital cataract in the family. This transition occurring at the C-terminus of MIP might decrease the stability of the C-end of the protein and impact the function of the protein.