Identification of a novel SYNGAP1 mutation in a child with intellectual disability.
10.3760/cma.j.issn.1003-9406.2019.07.015
- Author:
Jing LU
1
;
Yi ZHANG
;
Cong HAN
;
Jiayi ZHU
;
Jian WANG
;
Ruen YAO
Author Information
1. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200126, China. yaoruen@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Exons;
Female;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Intellectual Disability;
genetics;
Mutation;
ras GTPase-Activating Proteins;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):716-719
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on a child with mental retardation caused by SYNGAP1 gene mutation.
METHODS:Peripheral blood samples were collected from the proband and her parents. High throughput sequencing (HTS) was employed for screening for potential mutation in the patient. Suspected mutation was validated by Sanger sequencing of the child and her parents.
RESULTS:By HTS, a previously unknown mutation [c.1656C>A (p.C552*)] was found in exon 10 of the SYNGAP1 gene in the proband. Sanger sequencing confirmed the heterozygous nature of the mutation and that neither of her parents carried the same mutation.
CONCLUSION:The dysmorphism and developmental delay of the child were probably due to the pathogenic mutation of the SYNGAP1 gene. HTS can facilitate elucidation of the genetic etiology with efficiency, which has great significance in the diagnosis, treatment and prognosis of the child.
