ArticleHuman mutation2016
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.European journal of human genetics : EJHG · 2026Article
- Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases.International journal of genomics · 2026Article
- Novel Pathogenic Variant in Exon 31 of theAnnals of the Child Neurology Society · 2025Article
- Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.Scientific reports · 2025Article
- Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.Human genetics · 2025Article
- Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.European journal of human genetics : EJHG · 2024Review
- Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.Pediatric neurology · 2024Article
- Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelicFrontiers in oncology · 2024Article
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Identification of a Novel Canonical Splice Site VariantFrontiers in genetics · 2022Article
- Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.Pediatric neurology · 2020Article
- Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.Human mutation · 2020Article
- Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.Pediatric neurology · 2019Article
- Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 5 countries.
Funding
Abstract
Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC, even in the absence of clinical signs. However, exons 25 and 31 of TSC2 are subject to alternative splicing. No variants causing clinically diagnosed TSC have been reported in these exons, raising the possibility that such variants would not cause TSC. We present truncating and in-frame variants in exons 25 and 31 in three individuals unlikely to fulfil TSC diagnostic criteria and examine the importance of these exons in TSC using different approaches. Amino acid conservation analysis suggests significantly less conservation in these exons compared with the majority of TSC2 exons, and TSC2 expression data demonstrates that the majority of TSC2 transcripts lack exons 25 and/or 31 in many human adult tissues. In vitro assay of both exons shows that neither exon is essential for TSC complex function. Our evidence suggests that variants in TSC2 exons 25 or 31 are very unlikely to cause classical TSC, although a role for these exons in tissue/stage specific development cannot be excluded.
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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.