ArticleMolecular genetics & genomic medicine2020
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.Quantitative imaging in medicine and surgery · 2026Article
- De Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.Movement disorders clinical practice · 2025Article
- Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.Epigenomes · 2025Review
- Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.Frontiers in molecular biosciences · 2021Review
- Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.Molecular genetics & genomic medicine · 2020Article
- Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1.Pediatric dermatologyArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC-associated neuropsychiatric disorders (TAND). About 90%-95% of individuals with TSC will have an identifiable pathogenic variant in either TSC1 or TSC2. We present here two family members with clinical diagnoses of TSC that were later determined to be due to two different genetic etiologies.
methodsA 2-year-old Caucasian female (Patient 1) was born to non-consanguineous healthy parents and was determined to have a clinical diagnosis of TSC at 2 months old. Her paternal great-uncle (Patient 2) was also known to have a clinical diagnosis of TSC. Sequencing and deletion/duplication analysis for TSC1 and TSC2 were performed on both individuals.
resultsMutation analysis revealed that both Patient 1 and Patient 2 had identifiable pathogenic variants in TSC2. Patient 1 had c.4800_4801delTG (p.Cys1600Trpfs*2), while Patient 2 had c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAsp*).
conclusionTo our knowledge, our clinical report is of significance as it is the third kindred to be identified with affected members with two distinct genetic etiologies for TSC. Our case report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC.
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