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

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.

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Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

Journal of the Formosan Medical Association ◽

10.1016/s0929-6646(09)60157-1 ◽

2006 ◽

Vol 105 (7) ◽

pp. 599-603 ◽

Cited By ~ 15

Author(s):

Chih-Ping Chen ◽

Yi-Ning Su ◽

Chia-Cheng Hung ◽

Jin-Chung Shih ◽

Wayseen Wang

Keyword(s):

Tuberous Sclerosis ◽

Novel Mutation ◽

Tsc2 Gene

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

Journal of Molecular Diagnostics ◽

10.1016/j.jmoldx.2016.10.009 ◽

2017 ◽

Vol 19 (2) ◽

pp. 265-276 ◽

Cited By ~ 5

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

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

BMC Neurology ◽

10.1186/s12883-020-01905-y ◽

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

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

Journal of Child Neurology ◽

10.1177/0883073808323021 ◽

2009 ◽

Vol 24 (3) ◽

pp. 333-337 ◽

Cited By ~ 2

Author(s):

Georgia Ramantani ◽

Pascal Niggemann ◽

Gabriele Hahn ◽

Andrea Näke ◽

Raimund Fahsold ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Tsc2 Gene ◽

Hypomorphic Mutation

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

Experimental and Molecular Pathology ◽

10.1016/j.yexmp.2014.09.013 ◽

2014 ◽

Vol 97 (3) ◽

pp. 440-444 ◽

Cited By ~ 4

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

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Renal Manifestations of Tuberous Sclerosis Complex

Journal of Kidney Cancer and VHL ◽

10.15586/jkcvhl.2020.131 ◽

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.

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

10.1101/2021.10.25.465800 ◽

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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