A case of tuberous sclerosis induced by a somatic mosaic mutation in the TSC2 gene
10.3760/cma.j.issn.0412-4030.2018.06.002
- VernacularTitle:TSC2基因发生体细胞镶嵌突变导致结节性硬化症一例
- Author:
Xuan WANG
1
,
2
;
Li'na DUO
;
Yong YANG
;
Xianwei CAO
;
Zhimiao LIN
Author Information
1. 100034 北京大学第一医院皮肤科
2. 南昌大学第一附属医院皮肤科,330006
- Keywords:
Tuberous sclerosis complex;
Mosaicism;
TSC2 gene
- From:
Chinese Journal of Dermatology
2018;51(6):409-412
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinical features and detect mutations in a case of tuberous sclerosis complex (TSC) caused by a somatic mosaic mutation in the TSC2 gene.Methods Peripheral blood samples were obtained from a patient with suspected TSC,his parents,and 200 unrelated healthy controls.Genomic DNA was extracted from these blood samples,polymerase chain reaction (PCR)and nextgeneration sequencing were performed to amplify all the exons and their flanking sequences of the TSC 1 and TSC2 genes followed by DNA sequencing,so as to identify mutations in the TSC 1 and TSC2 genes.DNA was also extracted from lesional skin tissues of the patient,and PCR was conducted to amplify the target fragment of the TSC2 gene followed by DNA sequencing.Results The patient clinically presented with facial angiofibroma,depigmented patches on the waist,periungual fibroma and angioleio-myolipoma of the kidney,which were consistent with the diagnosis of TSC.A mutation c.5130_5131insT(p.V1711Cfs* 18) was identified in the TSC2 gene in the patient.A higher frequency of the mutation was found in the DNA of the tumor tissue than in that of the peripheral blood.No such a mutation was found in his parents'DNA,unrelated healthy controls or any public database.Conclusion The somatic mosaic mutation c.5130_513 1insT in the TSC2 gene is responsible for the phenotype of TSC in the patient.
