Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation.
10.3760/cma.j.cn511374-20201013-00716
- Author:
Weiliang LIU
1
;
Fang LI
;
Zhixu HE
;
Rong AI
Author Information
1. Department of Pediatrics, The Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou 550004, China. liuweiliang205@aliyun.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Mosaicism;
Mutation;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 1 Protein/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(1):68-71
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).
METHODS:Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing.
RESULTS:The patient was found to harbor a de novo mosaicism variant c.3295_3298delG (Val1100CysfsTer3) of the TSC2 gene, with the proportion of the mutant allele determined as 13.4%, which was confirmed by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3295_3298delG (Val1100CysfsTer3) variant was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION:The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.
