Analysis of CASR gene variant in a child with idiopathic epilepsy and autism.
10.3760/cma.j.cn511374-20201209-00862
- VernacularTitle:一例特发性癫痫伴自闭症患儿的
CASR基因变异分析
- Author:
Junjie NING
1
;
Lina QIAO
Author Information
1. Pediatric Intensive Care Unit, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. qiaolina@scu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Autistic Disorder;
Child;
Epilepsy/genetics*;
Exons;
Heterozygote;
Humans;
Receptors, Calcium-Sensing/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(3):309-311
- CountryChina
- Language:Chinese
-
Abstract:
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.
