摘要
目的对1例智力障碍患儿进行基因变异分析,明确其遗传学病因。方法对1例智力障碍患儿进行目标区域捕获测序,将测序结果与GenBank提供的标准序列进行对比,寻找基因序列的变异。对于检出的可能致病性变异,应用Sanger测序法,对患儿双亲进行验证,并分析患儿的临床遗传学特点。结果检测出患儿ARX基因c.1A>G半合子变异;双亲验证后,证实母亲为ARX基因c.1A>G杂合变异携带者,因此患儿的变异遗传自母亲。通过检索公共数据库及本地数据库该变异未收录、也未见文献报道,ARX基因c.1A>G变异为未报道过的新变异,临床意义为“可能致病性变异”。结论AKX基因c.1A>G(pMetl?)变异可能与患儿的智力障碍的发生相关。
Objective To explore the genetic basis for a child featuring severe mental retardation.Methods The child was subjected to target region capture and next generation sequencing.Suspected variants were verified by Sanger sequencing.Results The child was found to harbor a hemizygous c.1A>G(pMetl?)variation of the ARX gene,for which his mother was a heterozygous carrier.The mutation was unreported previously and was predicted to be“ probably pathogenic” by bioinformatic analysis.Conclusion The c.1A>G(pMetl?)variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.
作者
沈学萍
戚锋锋
顾春健
Shen Xueping;Qi Feng feng;Gu Chunjian(Huzhou Maternity and Child Health Care Hospital,Huzhou,Zhejiang 313000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第2期131-134,共4页
Chinese Journal of Medical Genetics
基金
浙江省医药卫生科技基金(2017KY647)。
关键词
ARX基因
基因变异
智力障碍
目标区域捕获测序
ARX gene
Gene variant
Mental retardation
Target region capture and sequencing