Linked Life Data

11283202

Source:http://linkedlifedata.com/resource/pubmed/id/11283202

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-4-3
pubmed:abstractText
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. Following the diagnosis, it was possible to elicit a history of regression in three of these patients, who by then were showing features suggestive of Rett syndrome. In the remaining two subjects the clinical phenotype was still considered to be Angelman-like. These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. Since MECP2 mutations almost always occur de novo, their identification will substantially affect genetic counselling for the families concerned.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-10364509, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-10577905, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-10745042, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-11022934, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-2325111, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-3409926, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-7566453, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-7625452, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-7684188, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-7815414, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-8521718, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-8563762, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-8988171, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-9399882, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-9508247, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-9620804, http://linkedlifedata.com/resource/pubmed/commentcorrection/11283202-9680152
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
224-8
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
pubmed:affiliation
Regional Genetic Service, St Mary's Hospital, Hathersage Road, Manchester M13 OJH, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't