Analysis of TSC gene mutations in five patients with tuberous sclerosis complex.
- Author:
Linli LIU
1
;
Zhengzhong ZHANG
;
Yunzhu MU
;
Fen XIONG
;
Hao YANG
;
Ping YANG
;
Yiping LIU
;
Xing CHEN
;
Weichi SUI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Child, Preschool; DNA Mutational Analysis; Female; Humans; Male; Mutation, Missense; Pedigree; Phenotype; Tuberous Sclerosis; genetics; Tumor Suppressor Proteins; genetics
- From: Chinese Journal of Medical Genetics 2017;34(2):164-168
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).
METHODSFor five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.
RESULTSFor one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.
CONCLUSIONThe missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.
