Archives of Disease in Childhood 2008;93:728-731
Leading articles
Tuberous sclerosis—what’s new?
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
Professor J P Osborne, Royal United Hospital Bath NHS Trust, Combe Park, Bath BA1 3NG, UK; mpsjpo@bath.ac.uk
Accepted 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
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Armstrong, L., Orr, V.
(2009). Seizures in a 9 month old girl. BMJ
339: b4133-b4133
[Full Text]
eLetters:
Read all eLetters
- Tuberous sclerosis: what's new...the role of gene testing
- Maya Chopra, et al.
- ADC Online, 2 Jul 2008 [Full text]
- Full Text
- Full Text (PDF)
-
All Versions of this Article:
adc.2006.094938v1
adc.2006.094938v2
93/9/728 most recent - Submit a response
- Read responses to this article
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in ADC Online
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
