Letters to the editor
Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene
| The first 150 words of the full text of this article appear below. |
EDITOR
Angelman syndrome (AS) is a genetic
disorder characterised by severe mental retardation, no speech, a wide
based gait with arms flexed at the elbows, resembling a newly walking
toddler, paroxysms of laughter, characteristic facial features,
epileptic seizures, and typical EEG abnormalities.1-3 The
clinical diagnosis can be confirmed by chromosomal studies or molecular
analysis in about 80% of patients, in most of whom a maternally
inherited deletion of chromosome 15q11-13 is found. Rarely, other
abnormalities are found, such as an abnormal methylation pattern of the
15q11-13 region of the maternal chromosome, paternal uniparental disomy (UPD), or imprinting centre mutations. In the remaining 20% no abnormality can be identified. Recently, two groups described mutations
in the E6-AP ubiquitin protein ligase gene
(UBE3A), located within the 15q11-13
region,4 5 suggesting that deficiency of the
UBE3A locus could cause AS.
We previously described AS patients without a detectable deletion or
UPD
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Lossie, A C, Whitney, M M, Amidon, D, Dong, H J, Chen, P, Theriaque, D, Hutson, A, Nicholls, R D, Zori, R T, Williams, C A, Driscoll, D J
(2001). Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J. Med. Genet.
38: 834-845
[Abstract] [Full Text]
- Full Text
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
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.
