Clinical and genetic analysis of a child with mental retardation autosomal dominant 7.
10.3760/cma.j.cn511374-20210409-00317
- Author:
Zhihong ZHUO
1
;
Yao WANG
;
Tianjiao FU
;
Xiao FANG
;
Xiaoli XU
;
Yue WANG
;
Huimin KONG
;
Huaili WANG
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052,China. whlek6527@126.com.
- Publication Type:Journal Article
- MeSH:
Arthrogryposis;
Child;
Facies;
Female;
Heterozygote;
Humans;
Intellectual Disability/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(5):530-533
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face.
METHODS:The clinical data of the child were collected. The peripheral blood samples of the patient and his parents were extracted for high-throughput sequencing, and Sanger sequencing verification and bioinformatics analysis were performed to detect suspected pathogenic variants.
RESULTS:The clinical manifestations of the child were overall developmental backwardness, seizures, autism, and special facial appearance. High throughput sequencing showed that there was a heterozygous mutation of exon 11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) of the DYRK1A gene. The same variant was found in neither of her parents, suggesting that it has a denovo origin.
CONCLUSION:The exon11: c.1920_c.1927delCCTCTACC (p.Ser641Rfs*31) mutation in DYRK1A gene was the genetic etiology of the case, which enriches the pathogenic gene spectrum of DYRK1A and provides the basis for clinical diagnosis and genetic counseling.
