Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex

2018 ◽  
Vol 32 (6) ◽  
pp. e243-e245 ◽  
Author(s):  
F. Cammarata-Scalisi ◽  
C. Vidales Moreno ◽  
F. Stock ◽  
A. Avendaño ◽  
D. Araque ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Tsc2 Gene ◽  
Severe Phenotype ◽  
Novel Mutations

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex

2017 ◽  
Vol 19 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Nur Farrah Dila Ismail ◽  
Abdul Qawee Rani ◽  
Nik Mohd Ariff Nik Abdul Malik ◽  
Chia Boon Hock ◽  
Siti Nabilahuda Mohd Azlan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Illumina Miseq ◽  
Amplicon Sequencing ◽  
Tsc2 Gene ◽  
Dependent Probe

scholarly journals A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Valérie Mongrain ◽  
Nicolaas H. van Doesburg ◽  
Françoise Rypens ◽  
Catherine Fallet-Bianco ◽  
Justine Maassen ◽  
...  
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
In Utero ◽  
Tsc2 Gene

Unusual Radiological Presentation of Tuberous Sclerosis Complex With Leptomeningeal Angiomatosis Associated With a Hypomorphic Mutation in the TSC2 Gene

2009 ◽  
Vol 24 (3) ◽  
pp. 333-337 ◽  
Author(s):  
Georgia Ramantani ◽  
Pascal Niggemann ◽  
Gabriele Hahn ◽  
Andrea Näke ◽  
Raimund Fahsold ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Tsc2 Gene ◽  
Hypomorphic Mutation

A novel mutation (insTCCG) in the TSC2 gene in a Chinese patient with Tuberous sclerosis complex

2008 ◽  
Vol 49 (1) ◽  
pp. 92-94 ◽  
Author(s):  
Cheng-Da Yuan ◽  
Xiao-Li Chang ◽  
Min Gao ◽  
Feng-Li Xiao ◽  
Yao-Qun Wu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Tsc2 Gene

The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex

2014 ◽  
Vol 97 (3) ◽  
pp. 440-444 ◽  
Author(s):  
Heung-Mo Yang ◽  
Hye-Jung Choi ◽  
Doo-Pyo Hong ◽  
Sung-Yeon Joo ◽  
Na-Eun Lee ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Tsc2 Gene

scholarly journals Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidharth K. Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Dissecting the Roles of the Tuberin Protein in the Subcellular Localization of the G2/M Cyclin, Cyclin B1

2021 ◽  
Author(s):  
Jessica Dare-Shih ◽  
Adam Pillon ◽  
Jackie Fong ◽  
Elizabeth Fidalgo da Silva ◽  
Lisa Porter
Keyword(s):  
Cell Cycle ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Molecular Mechanisms ◽  
Cyclin B1 ◽  
Nuclear Accumulation ◽  
Benign Tumors ◽  
Tsc2 Gene ◽  
Organ Systems ◽  
Wide Range

Tuberin is a major component of the protein regulatory complex known as the Tuberous Sclerosis Complex and plays a crucial role in cell cycle progression and protein synthesis. Mutations in the Tuberin gene, TSC2, lead to the formation of benign tumors in many organ systems and causes the Tuberous Sclerosis Complex disorder. Genotypes ranging from point mutations to large deletions in the TSC2 gene have been clinically characterized with a wide range of phenotypes from skin tumors to large brain tumors. Our current work investigates the molecular mechanisms behind Tuberin and its ability to regulate the cell cycle through its binding to the G2/M cyclin, Cyclin B1. After creating an early stop codon in a critical region of the Tuberin, our results show the in vitro phenotype that occurs from a truncated Tuberin protein. Herein we demonstrate that this clinically relevant truncated form of Tuberin promotes an increased nuclear accumulation of Cyclin B1 and a subsequent increase in cell proliferation supporting the phenotypic data seen in the clinic with Tuberous Sclerosis Complex patients showing deletions within the TSC2 gene. This data provides an insight into some of the functional and molecular consequences of truncated proteins that are seen in clinical patients.

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