Genetic detection analysis and prenatal genetic diagnosis of a case of CHD8 gene heterozygous mutation leading to autism complicated with intellectual disability
CHANG Yuanyuan
ZHANG Ying
XU Ying
SHI Runqian
ZHANG Jianfang
ZHANG Yuanyuan
Abstract：Objective To identify the genetic etiology of mental retardation,speechlessness and hypotonia in a proband,and to perform prenatal genetic diagnosis on the pregnant woman in order to avoid the birth of child with mental retardation.Methods The clinical case data of the proband were retrospectively collected,the gene detection of the proband was performed by whole exome sequencing(WES)technology,the candidate gene loci of the proband and her parents were verified by Sanger sequencing technology,and the prenatal diagnosis and genetic counseling of the pregnant woman were performed by amniocentesis.Results The heterozygous variant c.3293 del(p.P1098Hfs*12)in the CHD8 gene was the cause of the proband,the high-risk fetus carried the heterozygous variant c.1708A＞G(p.Arg570Gly)in the CERT1 gene,and after adequate genetic counseling,the pregnant woman chose to continue the pregnancy and is still under follow-up.Conclusion WES finds that the proband carries the heterozygous variant c.3293del(p.P1098Hfs*12)in the CHD8 gene,both parents are wild-type,and the proband is a new mutation.In the amniotic fluid sample of the pregnant woman,the fetus does not carry the heterozygous variant c.3293del in the CHD8 gene,but a heterozygous variant c.1708A＞G(p.Arg570Gly)in the CERT1 gene of unknown clinical significance is detected,and both parents are wild-type.Literature review and bioinformatics analysis find that the variant may be benign.
Keywords：autism susceptibility type 18CHD8CERT1prenatal diagnosis
Publication Date：2024-06-28
Online Publishing Date：2026-08-26(First online date of this platform, not the publication date of the document)
Pages：5( 645-649 )