A De Novo Mutation in TSC2 Gene is Associated with
Tuberous Sclerosis Complex (TSC): A Case Report
Volume 2 - Issue 1
Weihua Zhan1, Jiangbo Li1, Yajie Zhao2, Jianli Zhang2, Yaxi Zhang2, Yanxia Mi2 and Jianxiong Duan2*
-
Author Information
Open or Close
- 1Chengdu Shenkang Epilepsy Hospital, Chengdu 610000, People’s Republic of China
- 2Shanxi Guoxin Caregeno Medical Laboratory, Taiyuan 030006, People’s Republic of China
*Corresponding author:
Jianxiong Duan, Shanxi Guoxin Caregeno Medical Laboratory, Taiyuan 030006, People’s Republic of China,
China
Received: July 03, 2020; Published: July 08, 2020
DOI: 10.32474/LOJPCR.2020.02.000130
Full Text
PDF
To view the Full Article Peer-reviewed Article PDF
Abstract
Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is an autosomal dominant multisystem disorder
characterized by hamartomas in multiple organ systems including brain, skin, heart, kidneys, and lung. These changes can result
in epilepsy, learning difficulties, behavioral problems, renal failure, and other complications [1,2]. The affected genes are TSC1 and
TSC2, encoding hamartin and tuberin respectively. The hamartin tuberin complex inhibits the mammalian target of rapamycin
(mTOR) pathway, which controls cell growth and proliferation [2]. In this case, we report a 21-year-old Chinese female patient
with TSC due to a de-nove mutation c.1806C>G (p. Tyr602Ter) in TSC2 gene [3]. This is likely to be the first report of this mutation
in Chinese population. This mutation was evaluated as a pathogenic mutation based on the standards and guidelines of ACMG
(American College of Medical Genetics and Genomics).
Keywords: Chinese; Epilepsy; Tuberous sclerosis complex (TSC); Tuberous sclerosis-1 (TSC1); Tuberous sclerosis-2 (TSC2); de
novo mutation; ACMG
Abstract|
Introduction|
Case Report|
Discussion|
Conclusion|
Consent|
Acknowledgments|
References|