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

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

doi:10.1038/s41439-024-00278-9

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

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

Authors

Keiko Shimojima Yamamoto^{1

2}, Yusuke Itagaki³, Kazuki Tanaka³, Nobuhiko Okamoto⁴, Toshiyuki Yamamoto⁵

Affiliations

¹ Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
² Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
³ Department of Pediatrics, Suita Municipal Hospital, Suita, Japan.
⁴ Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
⁵ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. yamamoto.toshiyuki@twmu.ac.jp.

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.