Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex.
10.3760/cma.j.cn511374-20200610-00429
- Author:
Linli LIU
1
;
Chunshui YU
;
Herong YANG
;
Qinglian LU
;
Fei OUYANG
;
Tingting LIU
Author Information
1. Department of Dermatology, Suining Central Hospital, Suining, Sichuan 629000, China. 373405810@qq.com.
- Publication Type:Journal Article
- MeSH:
Genomics;
Heterozygote;
Humans;
Mutation;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(9):877-879
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient diagnosed with tuberous sclerosis complex (TSC).
METHODS:Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect potential variant, and the result was verified by Sanger sequencing.
RESULTS:The patient was found to harbor a heterozygous c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene. The same variant was not found in his unaffected parents and 100 unrelated healthy controls. Based on the American College of Medical Genetics and Genomics guidelines, the variant was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION:The novel c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene probably underlay the TSC in this patient.
