Sun Zixi, Zhou Qi, Li Huajin, Yang Lizhu, Wu Shijing, Sui Ruifang
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Mol Vis. 2017 Dec 24;23:977-986. eCollection 2017.
This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities.
Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the patients. Next-generation sequencing of known ocular genes was applied to the proband of each family and two simplex cases to find pathogenic variances. PCR and Sanger sequencing were conducted for validation and segregation tests.
All 13 patients had congenital cataracts, and other ocular abnormalities were found in some cases. Microcornea was found in 12 subjects, and ocular coloboma was observed in five. Various types of coloboma, including iris, choroid, macular, and optic disc, were described. Five mutations in crystallin genes were identified. Four of the mutations are novel: : p.(Arg230Cys), : p.(Gly149Val), : p.(Met44CysfsTer59), and : p.(Tyr144Ter). One mutation was reported previously: : p.(Arg21Trp).
We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. Four novel mutations and one previously reported mutation were identified. These data expand the mutation spectrum in crystallin genes and enhance our understanding of the phenotypes of congenital cataracts.
本研究旨在描述伴有其他眼部异常的中国先天性白内障患者的表型，并鉴定致病突变。
本研究纳入了来自四个无血缘关系的中国家庭的11名患者以及两个散发病例。进行了详细的眼科检查。从患者采集的外周血中分离DNA样本。对每个家庭的先证者和两个散发病例应用已知眼部基因的二代测序来寻找致病变异。进行聚合酶链反应（PCR）和桑格测序以进行验证和分离测试。
所有13名患者均患有先天性白内障，部分病例还发现了其他眼部异常。12名受试者存在小角膜，5名观察到眼部缺损。描述了各种类型的缺损，包括虹膜、脉络膜、黄斑和视盘缺损。在晶状体蛋白基因中鉴定出5个突变。其中4个突变是新的：p.(Arg230Cys)、p.(Gly149Val)、p.(Met44CysfsTer59)和p.(Tyr144Ter)。先前报道过1个突变：p.(Arg21Trp)。
我们检查了一组中国先天性白内障患者，并研究了其表型和基因型。先天性白内障患者也可出现晶状体外异常，如小角膜和眼部缺损。本研究首次报道了与黄斑和视盘缺损相关的先天性白内障表型。鉴定出4个新突变和1个先前报道的突变。这些数据扩展了晶状体蛋白基因的突变谱，增强了我们对先天性白内障表型的理解。
