一例伴有 ERCC8 新型起始丢失变体的轻度科凯恩综合征病例。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-11-07 DOI:10.1038/s41439-024-00297-6

Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu

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引用次数: 0

摘要

科凯恩综合征（Cockayne Syndrome，CS）是一种进行性多系统疾病，以生长发育障碍、小头畸形、发育迟缓和光敏感性为特征。大多数 CS 患者的特征性症状出现在儿童早期。在本文中，我们报告了一例患有ERCC8新型启动缺失变异的轻度CS病例，该病例在幼儿期没有表现出CS的特征性症状，但在10岁后突然出现生长衰竭。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years.

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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