Clinical Genetics
Clinical and genetic analysis of a child with mental retardation autosomal dominant 7
Zhuo Zhihong, Wang Yao, Fu Tianjiao, Fang Xiao, Xu Xiaoli, Wang Yue, Kong Huimin, Wang Huaili
Published 2022-05-10
Cite as Chin J Med Genet, 2022, 39(5): 530-533. DOI: 10.3760/cma.j.cn511374-20210409-00317
Abstract
ObjectiveTo analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face.
MethodThe 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.
ResultsThe 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.
ConclusionThe 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.
Key words:
DYRK1A gene; Mental retardation autosomal dominant7; High throughput sequencing
Contributor Information
Zhuo Zhihong
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wang Yao
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Fu Tianjiao
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Fang Xiao
PICU, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Xu Xiaoli
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wang Yue
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Huimin
Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wang Huaili
PICU, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
