一例伴有新型基因内多外显子重复的 CDKL5 缺乏症。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-11-08 DOI:10.1038/s41439-024-00296-7

Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

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引用次数: 0

摘要

我们报告了一例疑似 CDKL5 缺乏症（CDD）病例，在该病例中，我们利用新一代测序技术和多重连接依赖性探针扩增技术，在 CDKL5 基因中发现了一个新的基因内多外显子重复序列。这种重复被认为导致了阅读框的偏移和过早终止密码子的引入。该病例强调了仔细的表型分析和全面的基因检测对检测 CDD 患者罕见结构变异的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.

We present a case of suspected CDKL5 deficiency disorder (CDD) in which a novel intragenic multi-exonic duplication in the CDKL5 gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.

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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