Analyza mutaci u pacientu s tuberozni sklerozou.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal neurocutaneous disorder with a very variable clinical picture. It is characterized by development of benign tumours (hamartomas) affecting many organ systems including skin, central nervous system, kidney and heart. The most important clinical signs are epilepsy, mental retardation, facial angiofibromas, hypomelanotic patches and renal angiomyolipomas.The estimated prevalence of the disease is about 1:10000 live births. About 2/3 of affected patients are thought to have new mutations. The disease is caused by mutation of two involved genes, either on chromosome 9q34 (TSC1 gene) or on chromosome 16p13.3 (TSC2 gene). DNA mutation analysis is effective namely in families with multiple TSC incidence. In such families the linkage can be used and there are more TSC1 cases which are easily identifiable. Analysis is not economical for differential diagnosis. The number of revealed mutations correspondes to equal distribution of mutations in genes, with higher incidence in TSC2 gene. No correlation between the phenotype and the type of mutation was found. Genetic consultation have to be aware of the risk of mozaicism.Available from STL Prague, CZ / NTK - National Technical LibrarySIGLECZCzech Republi