[A novel missense mutation in MIP gene resulted in polymorphic cataract].
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).


CONCLUSIONS
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.
Lin
Hui
H
Department of Ophthalmology, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, People's Republic of China.
Wang
Li
L
Zhou
Nan
N
Su
Hong
H
Gu
Jingzhi
J
Qi
Yanhua
Y
D020346:Aquaporins / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015894:Genome, Human / Q000235:genetics; D023281:Genomics; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
D020346:Aquaporins; D005136:Eye Proteins; C030328:aquaporin 0