ArticleBMC medical genetics2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- A Systematic Review of Lymphangioleiomyomatosis on Diagnosis and Molecular Mechanism.BioMed research international · 2021Pooled it
- Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.Scientific reports · 2019Trial
- Tuberous sclerosis complex with ovarian endometrioma misdiagnosed as multiple metastases: a case report.Frontiers in medicine · 2026Article
- Giant renal angiomyolipoma unmasks underlying lymphangioleiomyomatosis: a case report and literature review.Frontiers in medicine · 2025Article
- New insights into tuberous sclerosis complex: from structure to pathogenesis.Frontiers in cell and developmental biology · 2025Review
- Molecular and Functional Assessment ofGenes · 2024Article
- Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.Molecular genetics & genomic medicine · 2024Article
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Review
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Article
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.American journal of human genetics · 2023Article
- Targeted Genomic Sequencing ofHuman mutation · 2023Article
- Identification of a Novel Canonical Splice Site VariantFrontiers in genetics · 2022Article
- Diagnostic features of tuberous sclerosis complex: case report and literature review.Quantitative imaging in medicine and surgery · 2022Article
- Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.American journal of medical genetics. Part A · 2021Article
- Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- 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
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in another as yet unidentified gene.
methodsHere we apply a targeted Next Generation Sequencing (NGS) approach to screen the complete TSC1 and TSC2 genomic loci in 7 individuals fulfilling the clinical diagnostic criteria for definite TSC in whom no TSC1 or TSC2 mutations were identified using conventional screening methods.
resultsWe identified and confirmed pathogenic mutations in 3 individuals. In the remaining individuals we identified variants of uncertain clinical significance. The identified variants included mosaic changes, changes located deep in intronic sequences and changes affecting promoter regions that would not have been identified using exon-only based analyses.
conclusionsTargeted NGS of the TSC1 and TSC2 loci is a suitable method to increase the yield of mutations identified in the TSC patient population.
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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.