遗传性癫痫伴热性惊厥附加症SLC32A1基因变异1例并文献复习

doi:10.3969/j.issn.1004-583X.2023.05.012

摘要/Abstract

摘要：

目的探讨SLC32A1基因错义变异对遗传性癫痫伴热性惊厥附加症(genetic epilepsy with febrile seizures plus,GEFS+)的影响。方法回顾性分析1例GEFS+SLC32A1基因变异患儿的临床资料并复习相关文献。结果患儿男,1岁半,主因反复发热惊厥3次,无热惊厥2次就诊。2个月前患儿因上呼吸道感染出现热性惊厥2次,体温达38.3 ℃,出现强直—阵挛性抽搐,持续1~3 min,自行缓解,后再次出现1次热性惊厥。1周前患儿无明显诱因出现无热惊厥2次,表现为强直阵挛发作。查脑电图、头颅磁共振成像均未见异常。家族中其父亲1岁热性惊厥1次,余均无明显抽搐病史。患儿系第1胎第1产,出生时无缺氧窒息史,生后生长发育正常。全外显子基因测序显示: SLC32A1基因上检出1个杂合意义未明变异:c.1184C>T(p.Pro395Leu),为错义变异。结论 SLC32A1基因突变与GEFS+相关,受检者表型符合度较高。检索相关文献,确定其与GEFS+相关,有助于发现GEFS+新的基因谱并有利于遗传咨询。

关键词: 遗传性癫痫伴热性惊厥附加症, SLC32A1基因, 惊厥

Abstract:

Objective To investigate the influence of missense mutations in the SLC32A1 gene on hereditary epilepsy with febrile seizures plus (GEFS+). Methods Clinical data of a child with GEFS+ caused by the SLC32A1 gene mutation were retrospectively analyzed, and relevant literatures were reviewed. Results A boy with 1 and a half year old presented with recurrent febrile seizures for three times and febrile seizures twice. Two months ago, the child experienced two episodes of febrile seizures due to upper respiratory tract infection, with a temperature of 38.3 ℃. Tonic-clonic convulsions occurred and lasted 1-3 minutes, which were resolved spontaneously. He then experienced another episode of febrile seizure. One week ago, the child experienced two episodes of febrile seizures without an obvious cause, manifesting as tonic-clonic seizures. No abnormalities were found in electroencephalography and cranial magnetic resonance imaging. His father had one episode of febrile convulsion at the age of 1 year, and the remaining family members denied history of convulsions. The child was the first newborn of his mother and he did not experience hypoxia and asphyxia at delivery, with normal growth and development after birth. Full-exon sequencing showed one heterozygous variant with unknown significance in the SLC32A1 gene: c.1184C>T (p.Pro395Leu), indicating a missense variant. Conclusion SLC32A1 gene mutation is associated with GEFS+, and the phenotypic consistency of the tested subjects is relatively high. Literature review to determine its relevance to GEFS+ contributes to discover new gene profiles of GEFS+ and facilitates genetic counseling.

Key words: shereditary epilepsy with febrile convulsion addition, SLC32A1 gene, convulsions

中图分类号:

R742.1

赵淑珍, 王三萍, 赵晓云. 遗传性癫痫伴热性惊厥附加症SLC32A1基因变异1例并文献复习[J]. 临床荟萃, 2023, 38(5): 451-454.

Zhao Shuzhen, Wang Sanping, Zhao Xiaoyun. SLC32A1 gene mutation in hereditary epilepsy with febrile convulsion addition: A case report and literature review[J]. Clinical Focus, 2023, 38(5): 451-454.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2023.05.012

https://huicui.hebmu.edu.cn/CN/Y2023/V38/I5/451

图/表 3

参考文献 15

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基因	染色体位置 (hg19)	参考转录本外显子	核苷酸改变氨基酸改变	功能改变	杂合性	变异来源	人群频率	致病性定级
SLC32A1	Chr20:37356888	NM_080552.3	C.1184C>T	错义突变	杂合	父亲	未收录	意义未明
		exon2	p.Pro395Leu
相关疾病		GEFS+?

基因	染色体位置 (hg19)	参考转录本外显子	核苷酸改变氨基酸改变	功能改变	杂合性	变异来源	人群频率	致病性定级
SLC32A1	Chr20:37356888	NM_080552.3	C.1184C>T	错义突变	杂合	父亲	未收录	意义未明
		exon2	p.Pro395Leu
相关疾病		GEFS+?

家系	突变位点	临床表型
1	c.1403T>C; p.(Leu468Pro)	GEFS+
2	c.1333C>T; p.(Leu445Phe)	GEFS+
3	c.127G>T; p.(Gly43Cys)	GEFS+
4	c.989T>C; p.(Met330Thr)	热性惊厥/全面特发性癫痫
5	c.1391C>G; p.(Thr464Arg)	GEFS+
6	c.788T>C; p.(Val263Ala)	热性惊厥/局灶性癫痫发作
7	c.1382G>A; p.(Gly461Asp)	GEFS+
8	c.1393G>A; p.(Gly465Ser)	GEFS+

家系	突变位点	临床表型
1	c.1403T>C; p.(Leu468Pro)	GEFS+
2	c.1333C>T; p.(Leu445Phe)	GEFS+
3	c.127G>T; p.(Gly43Cys)	GEFS+
4	c.989T>C; p.(Met330Thr)	热性惊厥/全面特发性癫痫
5	c.1391C>G; p.(Thr464Arg)	GEFS+
6	c.788T>C; p.(Val263Ala)	热性惊厥/局灶性癫痫发作
7	c.1382G>A; p.(Gly461Asp)	GEFS+
8	c.1393G>A; p.(Gly465Ser)	GEFS+