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一名具有早发性神经疾病特征的女性患者中涉及TCEAL1的Xq22缺失。

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

作者信息

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

机构信息

Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Hum Genome Var. 2024 May 15;11(1):20. doi: 10.1038/s41439-024-00278-9.

DOI:10.1038/s41439-024-00278-9
PMID:38750072
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11096163/
Abstract

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.

摘要

在一名患有早发性神经疾病特征（EONDT）的女性患者中，发现了Xq22区域存在一个3.5兆碱基的微缺失。尽管该缺失涉及PLP1基因，但患者表现出发育迟缓但无髓鞘形成不足的情况。然而，该患者的临床特征与TCEAL1功能丧失综合征相符。使用长读长测序分析了断点连接，并确认了平端融合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca7/11096163/e0d511cd57f4/41439_2024_278_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca7/11096163/23f0b96644ca/41439_2024_278_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca7/11096163/e0d511cd57f4/41439_2024_278_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca7/11096163/23f0b96644ca/41439_2024_278_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ca7/11096163/e0d511cd57f4/41439_2024_278_Fig2_HTML.jpg

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本文引用的文献

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Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10.
2
Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.用于聚类基因组拷贝数变异的长读长序列分析揭示了复杂交织重排的结构。
Am J Med Genet A. 2023 Jan;191(1):112-119. doi: 10.1002/ajmg.a.62997. Epub 2022 Oct 25.
3
Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.
利用纳米孔测序分析包含多个连续微缺失的复杂基因组重排的断点连接。
J Hum Genet. 2020 Sep;65(9):735-741. doi: 10.1038/s10038-020-0762-6. Epub 2020 Apr 30.
4
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Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14.
5
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