全外显子组测序在越南柯凯因综合征患者中发现了一种新的ERCC6变异。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-06-06 DOI:10.1038/s41439-022-00200-1

Nguyen Thuy Duong, Nguyen Phuong Anh, Nguyen Duy Bac, Le Bach Quang, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto

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引用次数: 1

摘要

我们描述了一例柯凯因综合征无光敏性在一个越南家庭。由于缺乏光敏性，16年来一直无法确定确切的医学临床诊断。全外显子组测序(WES)鉴定了ERCC6基因的一个新的错义变异，NM_000124.4: c.[2839C>T;2936A>G]， p.[R947*;K979R]。本病例强调了当患者未表现出柯凯因综合征的完整临床表型时，WES在调查疾病病因方面的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

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Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome.

We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years. Whole-exome sequencing (WES) identified a novel missense variant combined with a known nonsense variant in the ERCC6 gene, NM_000124.4: c.[2839C>T;2936A>G], p.[R947*;K979R]. This case emphasizes the importance of WES in investigating the etiology of a disease when patients do not present the complete clinical phenotypes of Cockayne syndrome.

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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