【摘要】 目的总结遗传性异卵双生Dravet综合征家系临床及SCN1A基因突变特点。方法分析华中科技大学同济医学院附属同济医院2017年6月收治的异卵双生Dravet综合征患儿兄妹各1例和全身性热性惊厥附加症(GEFS+)母亲家系的临床特征,进行SCN1A基因测序。并结合文献分析基因突变类型与Dravet综合征的关系。结果 2例患儿及其母亲均携带未报道过的SCN1A基因突变c.3624A>T(p.R1208S),该突变位于蛋白的罕见区域(Na+通道α亚基第2个环)。SCN1A基因突变以点突变多见,约占93.8%,突变位置与Dravet综合征临床表型的相关性复杂。结论该病例为国内首次报道的遗传自双亲之一的异卵双生Dravet综合征。SCN1A基因突变c.3624A>T(p.R1208S)发生于蛋白罕见区域,目前国际尚未报道。更多还原

【Abstract】 Objective To study the clinical features and SCN1 A gene mutation in a familial inherited Dravet syndrome family with dizygotic twins. Methods The clinical manifestations of dizygotic twins with Dravet syndrome and GEFS +mother were summarized and SCN1 A gene was sequenced. The relationship between genotype-phenotype of SCN1 A gene and Dravet syndrome was analyzed by literature. Results The dizygotic twins and their mother have de novo SCN1 A gene mutant c.3624 A>T(p.R1208 S)at the second loop of Na+channel α subunit. This is very rare compared to the usual mutation domain at S4 or S5-S6. It is the first report in China that Dravet syndrome dizygotic twins inherited SCN1 A gene mutation from their mother who was diagnosed as GEFS+. Point mutations of SCN1 A were more common,accounting for 93.8%. The relationships between phenotype-genotype were very complex,since other pathogenic factors may be involved in. Conclusion It is the first report in China that SCN1 A gene mutation in a familial inherited Dravet syndrome with dizygotic twins and found a de novo SCN1 A gene mutation of c.3624 A>T(p.R1208 S),which is located at the very rare region of the protein.更多还原