摘要
目的对1例特发性癫痫伴自闭症患儿进行全外显子组测序分析,以明确其可能的遗传学病因。方法抽取患儿及其父母的外周血,提取全基因组DNA,应用二代测序技术对全外显子组基因进行变异检测、生物信息学预测分析及Sanger测序验证。结果对全外显子进行检测,先证者CASR基因第7外显子存在c.3025C>T(p.Arg1009Ter)杂合变异,为无义变异,可产生一个截短的蛋白,功能预测软件结果为有害,根据美国医学遗传学与基因组学学会遗传变异分类标准与指南,CASR基因c.3025C>T(p.Arg1009Ter)变异判定为可能致病性变异(PVS1+PM2)。结论CASR基因c.3025C>T(p.Arg1009Ter)变异可能为患儿的遗传学病因。
Objective To explore the genetic basis for a child featuring idiopathic epilepsy and autism.Methods Peripheral blood samples of the child and his parents were collected with informed consent for the extraction of genome DNA.Whole exome sequencing was carried out for the family trio.Candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results The proband was found to harbor a heterozygous nonsense c.3025C>T(p.Arg1009Ter)variant in exon 7 of the CASR gene exon 7,which may produce a truncated protein.Based on the guidelines of the American College of Medical Genetics and Genomics,the variant was predicted to be deleterious and classified as possibly pathogenic(PVS1+PM2).Conclusion The c.3025C>T(p.Arg1009Ter)variant of the CASR gene probably underlay the disease in this child.
作者
宁俊杰
乔莉娜
Ning Junjie;Qiao Lina(Pediatric Intensive Care Unit,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2022年第3期309-311,共3页
Chinese Journal of Medical Genetics
