Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex.
10.3760/cma.j.cn511374-20200331-00227
- Author:
Chao HUANG
1
;
Qin ZHANG
;
Ying XUE
;
Hong LI
;
Ting WANG
Author Information
1. Central Laboratory, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China. biowt@163. com.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Testing;
Humans;
Male;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(2):154-157
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex (TSC).
METHODS:The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.
RESULTS:The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene. The same variant was not found among his family members and the fetus during his mother's subsequent pregnancy.
CONCLUSION:The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree. Above finding has enriched the spectrum of pathogenic variants associated with this disease.
