Document Detail

Clinical and genetic aspects of Angelman syndrome.
MedLine Citation:
PMID:  20445456     Owner:  NLM     Status:  MEDLINE    
Angelman syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter. Microcephaly and seizures are common. Developmental delays are first noted at 3 to 6 months age, but the unique clinical features of the syndrome do not become manifest until after age 1 year. Management includes treatment of gastrointestinal symptoms, use of antiepileptic drugs for seizures, and provision of physical, occupational, and speech therapy with an emphasis on nonverbal methods of communication. The diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with lack of maternal contribution. Less than 1% of individuals have a visible chromosome rearrangement. UBE3A sequence analysis detects mutations in an additional 11% of individuals. The remaining 10% of individuals with classic phenotypic features of Angelman syndrome have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. The risk to sibs of a proband depends on the genetic mechanism of the loss of the maternally contributed Angelman syndrome/Prader-Willi syndrome region: typically <1% for probands with a deletion or uniparental disomy; as high as 50% for probands with an imprinting defect or a mutation of UBE3A. Members of the mother's extended family are also at increased risk when an imprinting defect or a UBE3A mutation is present. Chromosome rearrangements may be inherited or de novo. Prenatal testing is possible for certain genetic mechanisms.
Charles A Williams; Daniel J Driscoll; Aditi I Dagli
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  12     ISSN:  1530-0366     ISO Abbreviation:  Genet. Med.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-15     Completed Date:  2010-10-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  385-95     Citation Subset:  IM    
Raymond C Philips Research and Education Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
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MeSH Terms
Angelman Syndrome / diagnosis*,  genetics*,  therapy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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