9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1994 ◽  
Vol 3 (10) ◽  
pp. 1829-1832 ◽  
Author(s):  
Caterina Carbonara ◽  
Lucia Longa ◽  
Enrico Grosso ◽  
Carla Borrone ◽  
Maria Grazia Garré ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Loss Of Heterozygosity ◽  
Tsc1 Gene ◽  
Growth Suppressor

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.

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 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

Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours

2003 ◽  
Vol 31 (3) ◽  
pp. 597-602 ◽  
Author(s):  
M.A. Knowles ◽  
N. Hornigold ◽  
E. Pitt
Keyword(s):  
Bladder Cancer ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Bladder Tumour ◽  
Gene Replacement ◽  
Tumour Suppressor Genes ◽  
Genetic Changes ◽  
Increased Risk ◽  
Tsc1 Gene ◽  
Wide Range

In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulation is implicated in a wide range of human malignancies, raises the possibility that their inactivation could contribute to the development of some sporadic cancers. To date the only evidence for this comes from the finding of mutations of TSC1 in bladder cancer. The mutation spectrum of TSC1 in bladder cancer and functional evidence from TSC1-gene-replacement studies in bladder tumour cells will be presented. The literature on genetic changes in several other sporadic epithelial cancers reveals relatively common deletions in the region of the TSC genes. In ovarian and gall bladder carcinoma and non-small-cell carcinoma of the lung, deletions in both 16p13 and 9q34 are found at significant frequency. Mutation analyses in such tumours are now merited.

Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas

1996 ◽  
Vol 15 (1) ◽  
pp. 18-25 ◽  
Author(s):  
Caterina Carbonara ◽  
Lucia Longa ◽  
Enrico Grosso ◽  
Gianna Mazzucco ◽  
Carla Borrone ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Loss Of Heterozygosity ◽  
Chromosomal Region ◽  
Preferential Loss

Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis

2013 ◽  
Vol 154 (23) ◽  
pp. 914-918 ◽  
Author(s):  
Erzsébet Kövesdi ◽  
Kinga Hadzsiev ◽  
Katalin Komlósi ◽  
Mária Kassay ◽  
Péter Barsi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
De Novo ◽  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Renal Cysts ◽  
Molecular Genetic Analysis ◽  
Autosomal Dominant Disorder ◽  
Modifying Factors ◽  
Tsc1 Gene

Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2523 C\>T) in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability. Orv. Hetil., 2013, 154, 914–918.

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