ArticleJournal of medical genetics1999
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 136 citations in OpenAlex.
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2023Pooled it
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2016Pooled it
- 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
- TSC complex decrease the expression of mTOR by regulated miR-199b-3p.Scientific reports · 2025Article
- Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.Orphanet journal of rare diseases · 2022Review
- Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge.Journal of multidisciplinary healthcare · 2022Review
- Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.Balkan medical journal · 2021Article
- Article
- Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation.Frontiers in cell and developmental biology · 2021Review
- Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.PLoS genetics · 2015Article
- The neurology of mTOR.Neuron · 2014Review
- The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.Frontiers in cell and developmental biology · 2014Review
- Evidence for population variation in TSC1 and TSC2 gene expression.BMC medical genetics · 2011Article
- Giant Cell Astrocytoma of the Retina in a 1-Month-Old Infant.Journal of pediatric ophthalmology and strabismus · 2009Article
- Missense mutations to the TSC1 gene cause tuberous sclerosis complex.European journal of human genetics : EJHG · 2009Article
- Genetics and molecular biology of tuberous sclerosis complex.Current genomics · 2008Article
- Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.Human molecular genetics · 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
- Malformations of cortical development and epilepsy.Dialogues in clinical neuroscience · 2008Review
- Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma.Pediatric radiology · 2007Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or TSC2 gene. The disease is characterised by a broad phenotypic spectrum that can include seizures, mental retardation, renal dysfunction, and dermatological abnormalities. The TSC1 gene was recently identified and has 23 exons, spanning 45 kb of genomic DNA, and encoding an 8.6 kb mRNA. After screening all 21 coding exons in our collection of 225 unrelated patients, only 29 small mutations were detected, suggesting that TSC1 mutations are under-represented among TSC patients. Almost all TSC1 mutations were small changes leading to a truncated protein, except for a splice site mutation and two in frame deletions in exon 7 and exon 15. No clear difference was observed in the clinical phenotype of patients with an in frame deletion or a frameshift or nonsense mutation. We found the disease causing mutation in 13% of our unrelated set of TSC patients, with more than half of the mutations clustered in exons 15 and 17, and no obvious under-representation of mutations among sporadic cases. In conclusion, we find no support for a genotype-phenotype correlation for the group of TSC1 patients compared to the overall population of TSC patients.
Indexed as
Identifiers
10227394PMC1734341W2172073182What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.