A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
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Wang W, Jiang J, Zhu Y, Li J, Jin C, Shentu X, Yao K
A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.
Mol Vis. 2010 Mar 25;16:534-9.
- PubMed ID
- 20361015 [ View in PubMed]
- Abstract
PURPOSE: To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts. METHODS: A detailed family history and clinical data were recorded. Mutation screening was performed in the nuclear cataract-related gene by bidirectional sequencing of the amplified products. The mutation was verified by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Two cataract phenotypes were observed within this family: one eye exhibited Y-suture and nuclear pulverulent opacification of the lens, while the others exhibited complete opacification in the fetal nuclear region. Sequencing of the candidate genes detected a heterozygous c.319G>A change in the coding region of the major intrinsic protein (MIP), resulting in the substitution of a highly conserved Valine by Isoleucine (p.V107I).The mutation was confirmed by DHPLC. CONCLUSIONS: This study has identified a novel MIP mutation, p.V107I in a Chinese family with congenital cataracts. To the best of our knowledge, this is the first reported case of cataracts caused by a mutation in the second extracellular loop domain of MIP.