Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract作者机构：Qingdao University Qingdao 266071 Shandong ProvinceChina Shandong Eye Institute Qingdao 266071 Shandong ProvinceChina Jinan Second People's Hospital Jinan 250022 ShandongProvince China
出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)
年 卷 期：2018年第11卷第10期
页 面：1577-1582页
核心收录：
学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学]
基 金：Supported by China Postdoctoral Science Foundation Funded Project(No.2017M612211) Shandong Provincial Natural Science Foundation(No.ZR2018MH016) Qingdao Postdoctoral Application Research Project(No.40518060071) Medical Program of Shandong Province(No.2016WS0265) Qingdao Science and Technology Plan(No.16-6-2-14-nsh) Shandong Province Higher Educational Science and Technology Program(No.J17KA235)
主 题：CRYBB1 CRYBB2 next-generation sequencing congenital cataract
摘 要：AIM：To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese ***：Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheritable genetic vision systemrelated genes were captured and sequenced by targeted next-generation sequencing,and the results were confirmed by Sanger sequencing. The possible functional impacts of an amino acid substitution were performed with Poly Phen-2 and SIFT ***：The patients in the two families were affected with congenital cataract. Sixty-five （FAMILY-1） and sixty two （FAMILY-2） single-nucleotide polymorphisms and indels were selected by recommended filtering *** was then analyzed by applying Sanger sequencing with the family members. A heterozygous CRYBB1 mutation in exon 4 （c.347T〉C, p.L116P） was identified in sixteen patients in FAMILY-1. A heterozygous CRYBB2 mutation in exon 5 （c.355G〉A, p.G119R） was identified in three patients in FAMILY-2. Each mutation cosegregated with the affected individuals and did not exist in unaffected family members and 200 unrelated normal *** mutation was predicted to be highly conservative and to be deleterious by both PolyPhen-2 and ***：TheCRYBB1 mutation（c.347T〉C）and CRYBB2 mutation （c.355G〉A） are novel in patients with congenital cataract. We summarize the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background.
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