Le Sy Vinh, Le Phan Hoang Truc, Le Thi Khanh Van, Kieu Huynh Thi Thuy, Hang Do Thi Thu
University of Engineering and Technology, Vietnam National University, Hanoi, Vietnam.
Faculty of Biology and Biotechnology, University of Science, Vietnam National University HCMC, Ho Chi Minh City, Vietnam.
Am J Med Genet A. 2017 Aug;173(8):2126-2131. doi: 10.1002/ajmg.a.38282. Epub 2017 May 24.
Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70-80% of patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder. In one affected individual, we detected a novel de novo heterozygous missense variant, c.695G>A, p.(Arg232Gln), in GABRB3, the gene encoding the β3-subunit of the gamma-aminobutyric acid type A (GABAA) receptor, which mediates inhibitory signaling within the central nervous system. In summary, the data in this study identify GABRB3 as a candidate gene for Dravet syndrome.
德拉韦综合征是一种罕见且严重的婴儿癫痫类型。大约70 - 80%的德拉韦综合征患者在SCN1A基因（编码钠通道α-1亚基的基因）中存在突变，而一些散发型患者在其他几个基因中的一个存在变异，包括但不限于GABRA1、SCN2A、STXBP1、GABRG2和SCN1B。在本研究中，我们对6例SCN1A基因阴性的德拉韦综合征患者进行了外显子组测序，以鉴定与该疾病相关的其他基因。在一名受影响个体中，我们在GABRB3基因（编码γ-氨基丁酸A型（GABAA）受体β3亚基的基因，该受体介导中枢神经系统内的抑制性信号传导）中检测到一个新的从头杂合错义变异，即c.695G>A，p.(Arg232Gln)。总之，本研究的数据确定GABRB3为德拉韦综合征的一个候选基因。
