中国实用儿科杂志2017，Vol.32Issue(10)：781-785,5.DOI:10.19538/j.ek2017100615
SCN1A基因突变致遗传性异卵双生Dravet综合征家系分析并文献复习
SCN1A gene mutation in a familial inherited Dravet syndrome with dizygotic twins and literature review
应艳琴 1崔东艳 1刘艳 1徐三清 1梁雁 1罗小平1
作者信息
- 1. 华中科技大学同济医学院附属同济医院儿科,湖北武汉430030
- 折叠
摘要
Abstract
Objective To study the clinical features and SCN1A 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 SCN1A gene was sequenced.The relationship between genotype-phenotype of SCN1A gene and Dravet syndrome was analyzed by literature.Results The dizygotic twins and their mother have de novo SCN1A gene mutant c.3624A ＞ T(p.R1208S) 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 SCN1A gene mutation from their mother who was diagnosed as GEFS+.Point mutations of SCN 1A 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 SCN1A gene mutation in a familial inherited Dravet syndrome with dizygotic twins and found a de novo SCN 1A gene mutation of c.3624A ＞ T(p.R1208S),which is located at the very rare region of the protein.关键词
遗传性Dravet综合征/家族性Dravet综合征/SCN1A/基因突变/异卵双生Key words
inherited Dravet syndrome/familial Dravet syndrome/SCN 1A/gene mutation/dizygotic twins分类
医药卫生引用本文复制引用
应艳琴,崔东艳,刘艳,徐三清,梁雁,罗小平..SCN1A基因突变致遗传性异卵双生Dravet综合征家系分析并文献复习[J].中国实用儿科杂志,2017,32(10):781-785,5.
