一个包含CRYBB2-CRYBB2P1的基因组缺失导致常染色体隐性先天性白内障。
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
作者信息
Irum Bushra, Kabir Firoz, Shoshany Nadav, Khan Shahid Y, Rauf Bushra, Naeem Muhammad Asif, Qaiser Tanveer A, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer
机构信息
The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
出版信息
Hum Genome Var. 2022 Sep 8;9(1):31. doi: 10.1038/s41439-022-00208-7.
Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome walking identified a large homozygous genomic deletion. Our data suggest that this deletion leads to CRYBB2-CRYBB2P1 fusion, consisting of exons 1-5 of CRYBB2 and exon 6 of CRYBB2P1, the latter of which harbors the c.463 C > T (p.Gln155*) mutation, and is responsible for arCC.
在此，我们报告了一个近亲结婚的巴基斯坦家庭，其中有多个个体患有常染色体隐性先天性白内障（arCC）。排除分析确定与22号染色体q区存在连锁关系，桑格测序结合基于聚合酶链反应（PCR）的染色体步移法鉴定出一个大的纯合基因组缺失。我们的数据表明，该缺失导致了CRYBB2 - CRYBB2P1融合，它由CRYBB2的外显子1 - 5和CRYBB2P1的外显子6组成，后者含有c.463 C>T（p.Gln155*）突变，并且是arCC的致病原因。
Zotero 插件