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.
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.
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。
Zotero 插件