A case with autosomal dominant mental retardation type 5 due to de novo SYNGAP1 variant.
10.3760/cma.j.issn.1003-9406.2020.06.016
- Author:
Zaifen GAO
1
;
Yuqiang LYU
;
Kaihui ZHANG
;
Min GAO
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):661-664
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the clinical and genetic features of a Chinese girl featuring mental retardation, intellectual disability, language development delay and epilepsy.
METHODS:G-banded chromosomal karyotyping was carried out for the child. Genomic DNA of the patient and her parents was extracted and subjected to high-throughput sequencing. The results were analyzed with bioinformatic tools and validated by Sanger sequencing.
RESULTS:The karyotype of the child was ascertained as 46,XX. Sequencing result showed that she has carried a de novo heterozygous c.1861C>T (p.R621X) variant of the SYNGAP1 gene.
CONCLUSION:The nonsense variant c.1861C>T (p.R621X) of the SYNGAP1 gene probably underlies the disease in this child. Above result has enabled genetic diagnosis and counseling for her family.
