scholarly journals The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Oncogene ◽  
2000 ◽  
Vol 19 (54) ◽  
pp. 6306-6316 ◽  
Author(s):  
Giovanna Benvenuto ◽  
Shaowei Li ◽  
Samantha J Brown ◽  
Richard Braverman ◽  
William C Vass ◽  
...  
Keyword(s):  
Cell Growth ◽  
Tuberous Sclerosis ◽  
Gene Product ◽  
Tsc1 Gene

scholarly journals A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients

1998 ◽  
Vol 62 (3) ◽  
pp. 203-213 ◽  
Author(s):  
J. M. YOUNG ◽  
M. W. BURLEY ◽  
S. J. JEREMIAH ◽  
D. JEGANATHAN ◽  
R. EKONG ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Tsc1 Gene ◽  
Mutation Screen

scholarly journals Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation

2021 ◽  
Vol 49 (8) ◽  
pp. 030006052110358
Author(s):  
Lin Qiao ◽  
Yuting Yang ◽  
Dongmei Yue
Keyword(s):  
Genetic Testing ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
De Novo ◽  
Clinical Manifestations ◽  
De Novo Mutation ◽  
Heterozygous Mutation ◽  
Loss Of Function ◽  
Autosomal Dominant Disorder ◽  
Tsc1 Gene

Objective Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC. Methods A newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the TSC1 and TSC2 gene exons were carried out to confirm the diagnosis. Results The results of MLPA were negative, but NGS showed a heterozygous mutation in the TSC1 gene comprising insertion of a T residue at c.2165 (exon 17) to c.2166 (exon 17), indicating a loss of function mutation. These results were verified by Sanger sequencing. This genetic change was present in the newborn but the parental genotypes were wild-type, indicating a de novo mutation. Conclusions In this case, a case of TSC caused by a heterozygous mutation in the TSC1 gene was confirmed by NGS sequencing. This indicates the suitability of genetic testing for the early diagnosis of clinically rare and difficult-to-diagnose diseases, to guide clinical treatment.

Loss of tuberin, the tuberous-sclerosis-complex-2 gene product is associated with angiogenesis

2001 ◽  
Vol 28 (9) ◽  
pp. 470-475 ◽  
Author(s):  
Phuong-Anh Nguyen-Vu ◽  
Ingrid Fackler ◽  
Adelheid Rust ◽  
Jeffrey E. DeClue ◽  
Christian A. Sander ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Gene Product ◽  
Tuberous Sclerosis Complex

scholarly journals Tuberous sclerosis: a syndrome of incomplete tumor suppression

2006 ◽  
Vol 20 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Todd McCall ◽  
Steven S. Chin ◽  
Karen L. Salzman ◽  
Daniel W. Fults
Keyword(s):  
Cell Growth ◽  
Tuberous Sclerosis ◽  
Signal Transduction Pathway ◽  
Loss Of Function ◽  
Cancer Cell Growth ◽  
Multiple Organs ◽  
The Central Nervous System ◽  
Neurocutaneous Syndrome ◽  
Cortical Tubers ◽  
Psychiatric Complications

Tuberous sclerosis (TS) is a congenital neurocutaneous syndrome (or phacomatosis) characterized by widespread development of hamartomas in multiple organs. For affected individuals, neurological and psychiatric complications are the most disabling and lethal features. Although the clinical phenotype of TS is complex, only three lesions characterize the neuropathological features of the disease: cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. The latter is a benign brain tumor of mixed neuronal and glial origin. Tuberous sclerosis is caused by loss-of-function mutations in one of two genes, TSC1 or TSC2. The normal cellular proteins encoded by these genes, hamartin and tuberin, respectively, form a heterodimer that suppresses cell growth in the central nervous system by dampening the phosphatidylinositol 3–kinase signal transduction pathway. The authors review the clinical and neuropathological features of TS as well as recent research into the molecular biology of this disease. Through this work, investigators are beginning to resolve the paradoxical findings that malignant cancers seldom arise in patients with TS, even though the signaling molecules involved are key mediators of cancer cell growth.

scholarly journals Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population

2020 ◽  
Author(s):  
Shruthi Sudarshan ◽  
Atin Kumar ◽  
Arun Gupta ◽  
Neetu Bhari ◽  
Gomathy Sethuraman ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Indian Population ◽  
Mutation Spectrum ◽  
Presenting Symptoms ◽  
Complex Patients ◽  
Tsc1 Gene ◽  
Detailed Assessment ◽  
Large Rearrangements ◽  
First Time

AbstractTuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

Three novel mutations of TSC1 gene in Chinese patients with tuberous sclerosis complex

2013 ◽  
Vol 52 (10) ◽  
pp. 1277-1279 ◽  
Author(s):  
Fuguang Zuo ◽  
Xi’an Fu ◽  
Hong Liu ◽  
Yongxiang Yu ◽  
Gongqi Yu ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Tsc1 Gene
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