A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family

作者：Wang, Wei; Jiang, Jin; Zhu, Yanan; Li, Jinyu; Jin, Chongfei; Shentu, Xingchao; Yao, Ke^*

来源：Molecular Vision, 2010, 16(60): 534-539.

• AQUAPORIN-0
• CONNEXINS
• PHENOTYPE
• FORM

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.

• 出版日期2010-3-25
• 单位浙江省人民医院; 浙江大学