ArticleBMC medical genetics2018
A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 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
- Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex.Neuropsychiatric disease and treatment · 2026Article
- Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.Frontiers in genetics · 2026Article
- Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2022Article
- Diagnostic features of tuberous sclerosis complex: case report and literature review.Quantitative imaging in medicine and surgery · 2022Article
- A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.BMC medical genetics · 2020Article
- Survival prediction for patients with lung adenocarcinoma: A prognostic risk model based on gene mutations.Cancer biomarkers : section A of Disease markers · 2020Article
- Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.Scientific reports · 2019Article
- Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature.Autopsy & case reportsArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological set of criteria and/or a causative mutation in TSC1 or TSC2 gene. CASE PRESENTATION: We report a Chinese TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. The older child had seizures. A novel heterozygous missense variant in the TSC2 gene (c.899G > T, p.G300 V) was identified and shown to be inherited from their father as well as paternal grandfather, both of whom presented with variable TSC-associated signs and symptoms.
conclusionWe identified a novel heterozygous TSC2 variant c.899G > T as the causative mutation in a Chinese family with TSC, resulting in wide intrafamilial phenotypic variability. Our study illustrates the importance of clinical evaluation and genetic testing for family members of the patient affected with TSC.
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