一名患有神经发育障碍患者中GJA1的罕见嵌合变异体。

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.

作者信息

Shimomura Rina, Yanagishita Tomoe, Ishiguro Kumiko, Shichiji Minobu, Sato Takatoshi, Shimojima Yamamoto Keiko, Nagata Miho, Ishihara Yasuki, Miyashita Yohei, Ishigaki Keiko, Nagata Satoru, Asano Yoshihiro, Yamamoto Toshiyuki

机构信息

Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Hum Genome Var. 2024 Jan 15;11(1):2. doi: 10.1038/s41439-023-00262-9.

DOI:10.1038/s41439-023-00262-9

PMID:38221519

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10788341/

Abstract

GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss, and tooth enamel hypoplasia. Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. This may be due to differences in the mosaic ratios in different organs.

摘要

GJA1是眼牙指发育异常（ODDD）的致病基因。在一名身材矮小、癫痫发作、髓鞘形成延迟、轻度听力损失和牙釉质发育不全的患者中，发现了一种新的从头GJA1变异，NM 000165:c263C＞T [p.P88L]，呈嵌合状态。尽管该患者表现出严重的神经发育迟缓，但ODDD的其他临床特征，包括肢体异常，都很轻微。这可能是由于不同器官中嵌合比例的差异所致。