ArticleJournal of medical genetics1996
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 33 citations in OpenAlex.
- Fetal Bradycardia Caused by Monogenic Disorders-A Review of the Literature.Journal of clinical medicine · 2022Review
- A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2013Review
- Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.American journal of human genetics · 1999Review
- Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.Journal of medical genetics · 1999Article
- Rare diseases. 1. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms.Thorax · 1999Review
- Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.Journal of medical genetics · 1998Article
- Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.American journal of human genetics · 1998Article
- Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model.Japanese journal of cancer research : Gann · 1997Article
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.3. Clinical criteria for diagnosis have been established, but diagnosis of patients with minimal expression of the disease can be very difficult. In children the phenotype is often incomplete or not fully assessable. Hence mildly affected subjects, at risk for severely affected offspring, may remain undiagnosed. The detection of (small) mutations in the tuberous sclerosis gene located on chromosome 16 (TSC2) has recently become possible and may be helpful in the diagnosis of ambiguous cases. To our knowledge, this is the first report of a point mutation in the TSC2 gene in a familial case of tuberous sclerosis. A nonsense mutation was detected in a family in which the father had only minor signs hinting at tuberous sclerosis. The son had multiple cardiac tumours and white patches, but full clinical investigation was impossible in this child. This case illustrates that mutation analysis can contribute to a diagnosis of tuberous sclerosis in families with an incomplete phenotype.
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