ArticleAmerican journal of human genetics1998
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 119 citations in OpenAlex.
- Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.European journal of human genetics : EJHG · 2015Trial
- The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.Brain communications · 2025Article
- The Spectrum of Renal "TFEopathies": Flipping the mTOR Switch in Renal Tumorigenesis.Physiology (Bethesda, Md.) · 2024Review
- Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
- Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).PloS one · 2019Article
- Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma.Cold Spring Harbor molecular case studies · 2018Article
- New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.The Journal of pathology · 2017Review
- Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.PLoS genetics · 2015Article
- Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.European journal of human genetics : EJHG · 2009Article
- Missense mutations to the TSC1 gene cause tuberous sclerosis complex.European journal of human genetics : EJHG · 2009Article
- Computational Systems Bioinformatics and Bioimaging for Pathway Analysis and Drug Screening.Proceedings of the IEEE. Institute of Electrical and Electronics Engineers · 2008Article
- Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.BMC medical genetics · 2008Article
- Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.Oncogene · 2005Review
- Signaling by target of rapamycin proteins in cell growth control.Microbiology and molecular biology reviews : MMBR · 2005Review
- Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.Molecular and cellular biology · 2004Article
- Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.Genes & development · 2003Article
- Neurologic manifestations of tuberous sclerosis complex.Current neurology and neuroscience reports · 2002Review
- Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.American journal of human genetics · 2001Article
- The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms.The American journal of pathology · 2001Article
- Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.American journal of human genetics · 2001Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Ninety patients with tuberous-sclerosis complex (TSC) were tested for subtle mutations in the TSC2 gene, by means of single-strand conformational analysis (SSCA) of genomic DNA. Patients included 56 sporadic cases and 34 familial probands. For all patients, SSCA was performed for each of the 41 exons of the TSC2 gene. We identified 32 SSCA changes, 22 disease-causing mutations, and 10 polymorphic variants. Interestingly, we detected mutations at a much higher frequency in the sporadic cases (32%) than in the multiplex families (9%). Among the eight families for which linkage to the TSC2 region had been determined, only one mutation was found. Mutations were distributed equally across the gene; they included 5 deletions, 3 insertions, 10 missense mutations, 2 nonsense mutations, and 2 tandem duplications. We did not detect an increase in mutations either in the GTPase-activating protein (GAP)-related domains of TSC2 or in the activating domains that have been identified in rat tuberin. We did not detect any mutations in the exons (25 and 31) that are spliced out in the isoforms. There was no evidence for correspondence between variability of phenotype and type of mutation (missense versus early termination). Diagnostic testing will be difficult because of the genetic heterogeneity of TSC (which has at least two causative genes: TSC1 and TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we identified (missense, small in-frame deletion, and tandem duplication) are not amenable to the mutation-detection methods, such as protein-truncation testing, that are commonly employed for genes that encode proteins with tumor-suppressor function.
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Registered trials
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