两个Coffin-Siris综合征家系的 ARID1B基因变异分析

被引：2

作者：

项延包 ^{[1
]}

万茹 ^{[2
]}

李焕铮 ^{[1
]}

徐晨阳 ^{[1
]}

徐云芝 ^{[1
]}

唐少华 ^{[1
]}

机构：

[1] 温州市中心医院中心实验室温州市出生缺陷重点实验室

[2] 中国医学科学院北京协和医学院

来源：

中华医学遗传学杂志 | 2022年 / 03期

关键词：

ARID1B基因; Coffin-Siris综合征; 基因变异; 全外显子组测序;

D O I：

暂无

中图分类号：

R596.1 [染色体病];

学科分类号：

1002 ; 100201 ;

摘要：

目的通过对两个Coffin-Siris综合征家系先证者的临床表征及基因变异分析, 揭示其可能的遗传发病机制, 为家系的遗传咨询提供依据。方法应用全外显子组测序技术对两例先证者进行致病原因筛查, 结合临床表型确定可能致病的候选基因, 用Sanger测序法对先证者及其家系成员进行变异验证。结果 WES检测结果显示家系1先证者ARID1B基因存在c.5467delG(p.Gly1823fs)杂合变异。家系2先证者检出ARID1B基因c.5584delA(p.Lys1862fs)杂合变异。Sanger测序结果表明两家系先证者父母ARID1B基因均为野生型, 经检索人类变异数据库, 两变异均为未报道过的新变异。根据美国医学遗传学与基因组学学会指南, ARID1B基因的c.5467delG和c.5584delA变异均为致病变异(PVS1+PS2+PM2)。结论 ARID1B基因c.5467delG(p.Gly1823fs)及c.5584delA(p.Lys1862fs)可能分别为两家系的致病原因, 基因检测结果为家系的遗传咨询提供了依据。

引用

页码：282 / 285

页数：4

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