Chen Doudou, Yang Tao, Zhu Siquan
Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu 610075, Sichuan, China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu 610032, Sichuan, China.
J Ophthalmol. 2021 Nov 17;2021:3847409. doi: 10.1155/2021/3847409. eCollection 2021.
To identify likely pathogenic variants in three families with congenital cataracts via panel-based exome sequencing.
A panel containing 153 genes associated with congenital cataracts was designed. Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria.
Three likely pathogenic variants were found. A novel : c.230G > T p.G77V variant was identified in family A, a novel : c.230G > A p.G77D variant was identified in family B, and a novel : c.475delG p.A159Pfs∗9 variant was identified in family C.
Panel-based exome sequencing revealed three likely pathogenic variants in three unrelated Chinese families with congenital cataracts. These data expand the genetic spectrum associated with congenital cataracts.
通过基于基因 panel 的外显子组测序，在三个先天性白内障家系中鉴定可能的致病变异。
设计了一个包含 153 个与先天性白内障相关基因的基因 panel。通过参考包括人类基因突变数据库（HGMD）、《人类孟德尔遗传》（OMIM）、遗传之家参考以及关于遗传性白内障遗传学的最新同行评审出版物等数据库来选择基因。使用 Illumina HiSeq X-Ten 平台进行基于基因 panel 的外显子组测序，然后用 Sanger 测序法确认所鉴定的变异，并根据美国医学遗传学与基因组学学会（ACMG）标准进行评估。
发现了三个可能的致病变异。在 A 家系中鉴定出一个新的：c.230G＞T p.G77V 变异，在 B 家系中鉴定出一个新的：c.230G＞A p.G77D 变异，在 C 家系中鉴定出一个新的：c.475delG p.A159Pfs∗9 变异。
基于基因 panel 的外显子组测序在三个不相关的先天性白内障中国家系中揭示了三个可能的致病变异。这些数据扩展了与先天性白内障相关的遗传谱。
