一名女性早发性神经系统疾病患者体内涉及 TCEAL1 的 Xq22 缺失。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-05-15 DOI:10.1038/s41439-024-00278-9

Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

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引用次数: 0

摘要

在一名女性早发性神经系统疾病（EONDT）患者体内发现了 Xq22 3.5-Mb 的微缺失。尽管 PLP1 参与了缺失，但该患者表现出发育迟缓，没有骨髓营养不良。然而，该患者的临床特征与 TCEAL1 功能缺失综合征一致。使用长读程测序分析了断点连接，并证实了钝端融合。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed.

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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