Clinical and genetic aspects of Angelman syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-07

AUTHORS

Charles A. Williams, Daniel J. Driscoll, Aditi I. Dagli

ABSTRACT

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. More... »

PAGES

385-395

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  • Journal

    TITLE

    Genetics in Medicine

    ISSUE

    7

    VOLUME

    12

    Author Affiliations

    Clinical Trials linked to this publication

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1097/gim.0b013e3181def138

    DOI

    http://dx.doi.org/10.1097/gim.0b013e3181def138

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1004644025

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20445456


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