Tuberous sclerosis-what's new?

摘要

Tuberous sclerosis (TSC) is a condition well known to paediatricians for causing severe epilepsy, learning difficulties and behaviour problems in about half of those affected.1 It also causes cardiac rhabdo-myomas skin lesions renal cysts and angiomyolipomas, subependymal giant cell astrocytomas and retinal astrocyto-mas. TSC results from damage to one of two genes: TSC1 on chromosome 9 and TSC2 on chromosome 16. The protein products of the TSC1 and TSC2 genes are called hamartin and tuberin respectively. Both genes function as tumour suppressor genes and when they are damaged as in TSC there is a tendency to form benign tumours (hamartomas) in most organs of the body.Occasionally, people have contiguous deletions of the TSC2 gene and the adjacent adult-onset poly cystic kidney disease gene (PKD1), and they develop early-onset polycystic kidney disease as well as the other features of TSC#