A De Novo Mutation in TSC2 Gene is Associated with Tuberous Sclerosis Complex (TSC): A Case Report

Jianxiong Duan

doi:10.32474/lojpcr.2020.02.000130

Abstract

TSC (tuberous sclerosis complex) is an autosomal dominant multi system disorder characterized by hamartomas in multiple...

Highlights

tuberous sclerosis complex (TSC) is an autosomal dominant multi system disorder characterized by hamartomas in multiple organ systems
The hamartin tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation [2]
10 to 30% of cases of TSC are due to mutations in the Tuberous sclerosis-1 (TSC1) gene, the frequency of cases due to mutations in the Tuberous sclerosis-2 (TSC2) gene is consistently higher

Summary

Introduction

TSC (tuberous sclerosis complex) is an autosomal dominant multi system disorder characterized by hamartomas in multiple organ systems. Tyr602Ter) we detected does not exist in either Chinese population or any other populations It has been identified as a pathogenic mutation in Clinvar database based on the hypotheses [4]. Tyr602Ter) in TSC2 gene (reference transcript, NM_000548) was discovered in the patient This mutation rarely occurs among either Chinese or any other ethnic groups, as it was not reported in mutation frequency databases including 1000 Genomes Database and genome AD database. This variant was further confirmed by Sanger Sequencing and was not detected in either of her healthy parents or her healthy younger brother, which indicated that this variant was a de novo mutation (Figure 2). This has been the first report of the mutation in Chinese population

Findings

Discussion

Conclusion