一例患有涉及启动子区域的新型SCN1A大片段缺失的Dravet综合征病例。

A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.

作者信息

Nakahara Sakamoto Eri, Shimada Shino, Yamaguchi Tokito, Ishida Tomoya, Imai Katsumi, Eguchi Hidetaka, Okazaki Yasushi, Arai Masami

机构信息

Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Bunkyo, Japan.

Department of Pediatrics, NHO, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.

出版信息

Hum Genome Var. 2025 Sep 3;12(1):17. doi: 10.1038/s41439-025-00320-4.

DOI:10.1038/s41439-025-00320-4

PMID:40903466

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12408803/

Abstract

Here we present a case of Dravet syndrome in which a novel heterozygous deletion involving the promoter region of the SCN1A gene was identified using next-generation sequencing and multiple ligation-dependent probe amplification. This microdeletion is believed to reduce SCN1A transcription, leading to haploinsufficiency. This case highlights the importance of early genetic analysis, including that of promoter regions, before the diagnostic criteria are met for the induction of specific treatments.

摘要

在此，我们报告一例Dravet综合征病例，其中通过新一代测序和多重连接依赖探针扩增技术鉴定出一种涉及SCN1A基因启动子区域的新型杂合缺失。这种微缺失被认为会减少SCN1A的转录，导致单倍剂量不足。该病例突出了在满足特定治疗诱导的诊断标准之前进行早期基因分析的重要性，包括对启动子区域的分析。