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Leading articles |
1 Royal United Hospital Bath NHS Trust, Bath, UK
2 School for Health, the University of Bath, Bath, UK
3 University of Bristol, Bristol, UK
4 Bristol Royal Hospital for Children, Bristol, UK
Correspondence to:
Professor J P Osborne, Royal United Hospital Bath NHS Trust, Combe Park, Bath BA1 3NG, UK; mpsjpo@bath.ac.uk
Accepted for publication 28 January 2008
| The first 150 words of the full text of this article appear below. |
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 rhabdomyomas, skin lesions, renal cysts and angiomyolipomas, subependymal giant cell astrocytomas and retinal astrocytomas.2–5 TSC results from damage to one of two genes: TSC1 on chromosome 9 and TSC2 on chromosome 16.6 7 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.8 9 Occasionally, people have contiguous deletions of the TSC2 gene and the adjacent adult-onset polycystic kidney disease gene (PKD1), and they develop early-onset polycystic kidney disease as well as the other features of TSC.
In the central nervous system, the hamartomas take the form of
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