THE GENETIC-BASIS OF TUBEROUS SCLEROSIS

Tuberous sclerosis is a relatively common inherited disease that cause s multiple benign tumours in different organs, frequently leading to s kin rashes, seizures and mental handicap, The disease can be caused by mutations in either of two genes, TSC2, identified in 1993, and TSC1, only recently identified. Here we review the current state of knowled ge of the molecular genetics of tuberous sclerosis and the spectrum of mutations seen in and the implications of recent findings for patient s. Although both genes appear to function as tumour suppressors, the f unction of their protein products is not understood, A speculative mod el of how these proteins might function is briefly described.