ATRX剪接变异体c.21-1G>A无症状。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-09-14 DOI:10.1038/s41439-022-00212-x

Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata

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引用次数: 0

摘要

通过对柯凯因综合征无α地中海贫血x连锁智力残疾综合征(ATR-XS)患者的外显子组分析检测到ATRX变异c.21-1G>A。此外，还检测到了ERCC6的变异。ATRX c.21-1G>A定位于内含子1的剪接受体位点。该剪接事件NM_000489.6: c.21_133del p.S7Rfs*1诱导外显子2缺失和提前终止。ATRX外显子3的起始密码子被认为是产生一个略短但有功能的ATRX蛋白。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

The ATRX splicing variant c.21-1G>A is asymptomatic.

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The ATRX splicing variant c.21-1G>A is asymptomatic.

The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected. ATRX c.21-1G>A is localized at the splicing acceptor site of intron 1. This splicing event, NM_000489.6: c.21_133del p.S7Rfs*1, induces exon 2 deletion and early termination. The start codon in exon 3 of ATRX is presumed to produce a slightly shorter but functional ATRX protein.

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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