Tuberous Sclerosis Complex: mutations, functions and phenotypes
2005
textabstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the
development of hamartomas in multiple organs and tissues. TSC is caused by mutations in
either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490
patients diagnosed with or suspected of having TSC using a combination of denaturing gradient
gel electrophoresis, single-strand conformational polymorphism, direct sequencing, fluorescent
in situ hybridisation and Southern blotting. We identified pathogenic mutations in 362 patients,
a mutation detection rate of 74%. Of these 362 patients, 276 had a definite clinical diagnosis of
TSC and in these patients 235 mutations were identified, a mutation detection rate of 85%. The
ratio of TSC2:TSC1 mutations was 3.4:1. In our cohort, both TSC1 mutations and mutations in
familial TSC2 cases were associated with phenotypes less severe than de novo TSC2 mutations.
Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation
was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2
mutation.
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