ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
- Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.Journal of neurology · 2026Article
- The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex.Acta neuropathologica · 2026Article
- A case of confirmed mosaic tuberous sclerosis complex with isolated shagreen patch as the sole cutaneous manifestation.JAAD case reports · 2026Article
- Molecular Characterization ofHuman mutation · 2026Article
- Insights into Tuberous Sclerosis Complex : From Genes to Clinics.Journal of Korean Neurosurgical Society · 2025Article
- Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected inRadiology case reports · 2025Article
- Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.Molecular genetics & genomic medicine · 2024Article
- Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.Orphanet journal of rare diseases · 2024Article
- Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.Nature reviews. Nephrology · 2024Review
- Review
- Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.Frontiers in cell and developmental biology · 2024Article
- Article
- Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.American journal of human genetics · 2023Article
- Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings.JID innovations : skin science from molecules to population health · 2023Article
- Targeted Genomic Sequencing ofHuman mutation · 2023Article
- From First to Second: How Stickler's Diagnostic Genetics Has Evolved to Match Sequencing Technologies.Genes · 2022Review
- Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.The Journal of clinical investigation · 2022Article
- VHL mosaicism: the added value of multi-tissue analysis.NPJ genomic medicine · 2022Article
- Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.Frontiers in genetics · 2022Article
- Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene.International journal of general medicine · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo examine the prevalence and spectrum of mosaic variant allele frequency (MVAF) in tuberous sclerosis complex (TSC) patients with low-level mosaicism and correlate genetic findings with clinical features and transmission risk.
methodsMassively parallel sequencing was performed on 39 mosaic TSC patients with 170 different tissue samples.
resultsTSC mosaic patients (MVAF: 0-10%, median 1.7% in blood DNA) had a milder and distinct clinical phenotype in comparison with other TSC series, with similar facial angiofibromas (92%) and kidney angiomyolipomas (83%), and fewer seizures, cortical tubers, and multiple other manifestations (p < 0.0001 for six features). MVAF of TSC1/TSC2 pathogenic variants was highly variable in different tissue samples. Remarkably, skin lesions were the most reliable tissue for variant identification, and 6 of 39 (15%) patients showed no evidence of the variant in blood. Semen analysis showed absence of the variant in 3 of 5 mosaic men. The expected distribution of MVAF in comparison with that observed here suggests that there is a considerable number of individuals with low-level mosaicism for a TSC2 pathogenic variant who are not recognized clinically.
conclusionOur findings provide information on variability in MVAF and risk of transmission that has broad implications for other mosaic genetic disorders.
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