Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1
10.3760/cma.j.issn.1003-9406.2019.10.003
- VernacularTitle: TSC1基因新突变导致的结节性硬化症家系的遗传学研究
- Author:
Shide ZHANG
1
;
Zhanxiang WANG
2
;
Rong LIN
3
;
Jingjun ZHAO
4
Author Information
1. Department of Dermatology, the Affiliated Fuding Hospital, Fujian University of Traditional Chinese Medicine, Fuding, Fujian 355200, China
2. Department of Dermatology, Puyang Oilfield General Hospital, Puyang, Henan 457001, China
3. Department of Laboratory, the Affiliated Fuding Hospital, Fujian University of Traditional Chinese Medicine, Fuding, Fujian 355200, China
4. Department of Dermatology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China
- Publication Type:Journal Article
- Keywords:
Tuberous sclerosis complex;
TSC1 gene;
TSC2 gene;
mutation
- From:
Chinese Journal of Medical Genetics
2019;36(10):961-964
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex(TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.
Methods:Unique clinical phenotypes, the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC.Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.A total of 150 normal unrelated individuals were used as controls.
Results:Genetic analysis documented the presence of a heterozygous mutation, c. 1781_1782delTG (p.Val594GlyfsX11), in the exon 15 of TSC1 gene within all the patients of the family. This mutation was not observed in the eight unaffected family members or in the 150 unrelated control subjects from the same population , or the Human Gene Mutation Database(HGMD)and had completely co-segregated with the disease phenotype in the family.
Conclusions:The c. 1781_1782delTG mutation of TSC1 gene may be responsible for the tuberous sclerosis complex in this family. The data presented in the present study are of significance to clinicians, as well as genetic counselors, and may provide new clues for molecular diagnosis of this disease.
