Wang Wei, Jiang Jin, Zhu Yanan, Li Jinyu, Jin Chongfei, Shentu Xingchao, Yao Ke
Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China.
Mol Vis. 2010 Mar 25;16:534-9.
To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts.
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).
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.
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.
检测一个患有双侧先天性白内障的中国家系潜在的基因缺陷。
记录详细的家族史和临床资料。通过对扩增产物进行双向测序，对核性白内障相关基因进行突变筛查。通过变性高效液相色谱法（DHPLC）验证突变。
在该家系中观察到两种白内障表型：一只眼睛表现为Y形缝和晶状体核粉末状混浊，而其他眼睛在胎儿核区域表现为完全混浊。对候选基因进行测序，在主要内在蛋白（MIP）的编码区检测到一个杂合的c.319G>A变化，导致高度保守的缬氨酸被异亮氨酸取代（p.V107I）。该突变通过DHPLC得到证实。
本研究在一个先天性白内障的中国家系中鉴定出一种新的MIP突变，即p.V107I。据我们所知，这是首次报道由MIP第二个细胞外环域突变引起的白内障病例。
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