A novel missense mutation in MIP gene resulted in polymorphic cataract.
- Author:
Hui LIN
1
;
Li WANG
;
Nan ZHOU
;
Hong SU
;
Jingzhi GU
;
Yanhua QI
Author Information
- Publication Type:Journal Article
- MeSH: Aquaporins; genetics; Base Sequence; Cataract; genetics; Exons; genetics; Eye Proteins; genetics; Female; Genome, Human; genetics; Genomics; Genotype; Humans; Male; Mutation, Missense; Pedigree; Polymorphism, Genetic; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2008;25(1):6-10
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo map the disease locus for a congenital cataract family, and detect the disease-causing gene.
METHODSAn 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.
RESULTSThe 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).
CONCLUSIONThe 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.
