包含CRYBB2-CRYBB2P1的基因组缺失是常染色体隐性遗传性先天性白内障的原因。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-09-08 DOI:10.1038/s41439-022-00208-7

Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A Qaiser, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

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引用次数: 0

摘要

在这里，我们报告一个近亲巴基斯坦家庭与多个受影响的个体常染色体隐性先天性白内障(arCC)。排除分析确定了与22q染色体的连锁，Sanger测序结合pcr染色体行走发现了一个大的纯合子基因组缺失。我们的数据表明，这种缺失导致CRYBB2-CRYBB2P1融合，包括CRYBB2的外显子1-5和CRYBB2P1的外显子6，后者含有C. 463 C > T (p.Gln155*)突变，并负责arCC。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

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.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks