Ning Junjie, Qiao Lina
Pediatric Intensive Care Unit, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):309-311. doi: 10.3760/cma.j.cn511374-20201209-00862.
To explore the genetic basis for a child featuring idiopathic epilepsy and autism.
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.
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).
The c.3025C>T (p.Arg1009Ter) variant of the CASR gene probably underlay the disease in this child.
探究一名患有特发性癫痫和自闭症儿童的遗传基础。
在获得知情同意后采集该儿童及其父母的外周血样本，用于提取基因组DNA。对这一家三口进行全外显子组测序。通过桑格测序和生物信息学分析对候选变异进行验证。
先证者被发现CASR基因第7外显子存在一个杂合的无义c.3025C>T（p.Arg1009Ter）变异，这可能产生截短蛋白。根据美国医学遗传学与基因组学学会的指南，该变异被预测为有害的，并被分类为可能致病（PVS1+PM2）。
CASR基因的c.3025C>T（p.Arg1009Ter）变异可能是该儿童患病的原因。
