Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report

Medicine
Shan GaoYongmei Xie

Abstract

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes. In this report, we are discussing a novel frameshift mutation and a novel missense mutation in the TSC2 gene. The two cases discussed in this study met the latest diagnostic criteria for TSC published by the International Tuberculosis Sclerosis Complex Consensus Conference in 2012. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to examine tuberous sclerosis complex (TSC)-related genes (TSC1 and TSC2) and their splicing regions using peripheral blood DNA from two probands in two families with TSC and to identify the genetic mutation sites. Amplification primers were designed for the mutation sites, and polymerase chain reaction and Sanger sequencing were used to verify the peripheral blood DNA sequences from the probands and their parents. Proband 1 had the c.1228 (exon 12)_c.1229 (exon 12) insG (p.L410RfsX11) heterozygous mutation in the TSC2 gene (chr16), which was a new frameshift mutation. Proband 2 had the c.4925G>A (exon 38) (p.G1642D) heterozygous mutation in the TSC2 gene (chr16), which was a new missense mutation. These two novel mutat...Continue Reading

References

Jan 1, 1991·Annals of the New York Academy of Sciences·J P OsborneD Webb
Nov 10, 2001·Brain & Development·M Mizuguchi, S Takashima
Oct 24, 2003·Neurobiology of Disease·Michelle MaldonadoPeter B Crino
Nov 17, 2005·Oncogene·Aristotelis Astrinidis, Elizabeth P Henske
May 10, 2008·The Biochemical Journal·Jingxiang Huang, Brendan D Manning
Nov 26, 2008·Brain & Development·Valerio NapolioniPaolo Curatolo
Feb 12, 2010·Annals of the New York Academy of Sciences·Ksenia A Orlova, Peter B Crino
Feb 7, 2013·Acta Neuropathologica·Peter B Crino
Sep 24, 2013·Pediatric Neurology·Darcy A KruegerUNKNOWN International Tuberous Sclerosis Complex Consensus Group
Apr 1, 2014·Japanese Journal of Clinical Oncology·Nur Farrah Dila IsmailTeguh Haryo Sasongko
Apr 5, 2014·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Cheng-Hsien HuangUNKNOWN National Taiwan University Hospital Tuberous Sclerosis Complex (NTUH TSC) Study Group
May 21, 2014·Journal of Genetics·Zheng YuYun Bai
Dec 24, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Liesbeth De WaeleDjalila Mekahli

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

Illumina
SAMtools
BclToFastq
Polyphen2
REVEL
Sift
CAP
Provean
BWA
Mutationtaster

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Yuchun PanYing Hao
European Journal of Human Genetics : EJHG
A M van den OuwelandD J Halley
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Yuchun PanYing Hao
© 2022 Meta ULC. All rights reserved