Abstract
Tuberous sclerosis complex is a genetic disorder that is manifested by benign tumours in many tissues and organs (particularly of the skin, brain, kidney, heart). Pathogenic mutations are in TSC1 and TSC2 gene.
This study is focused on phenotype/genotype correlation. In the group of 99 probands were found 75 mutations in TSC2 gene and 24 mutations in TSC1 gene.
Phenotype/genotype analysis of a group of 118 patients revealed that TSC2 mutations are associated with more severe phenotypes than TSC1 mutations. Furthermore, there were found significant correlations between findings of hypomelanotic spots and the incidence of cortical tubers, the facial skin involvement (angiofibromas) and evidence of renal angiomyolipomas, between hamartoma of the retina and heart rhabdomyoma, or between epilepsy and mental retardation in the group of patients with TSC2 mutations.
Conversely, in individuals with TSC1 mutations have been rarely observed angiomylipomas and multiple renal cysts, fibrous plaques forehead and hamartoma of the retina. No statistically significant correlation was observed between different types of mutations and specific phenotypes.