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Angelman syndrome: review of clinical and molecular aspects

Authors Bird L

Received 11 November 2013

Accepted for publication 16 February 2014

Published 16 May 2014 Volume 2014:7 Pages 93—104

DOI https://doi.org/10.2147/TACG.S57386

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 4


Lynne M Bird

1Department of Pediatrics, University of California, Division of Genetics, Rady Children’s Hospital, San Diego, California, USA

Abstract: “Angelman syndrome” (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmorphic features, as well as ataxia and other movement disturbances, are additional features seen in most affected individuals. AS is due to deficient expression of the ubiquitin protein ligase E3A (UBE3A) gene, which displays paternal imprinting. There are four molecular classes of AS, and some genotype–phenotype correlations have emerged. Much remains to be understood regarding how insufficiency of E6-AP, the protein product of UBE3A, results in the observed neurodevelopmental deficits. Studies of mouse models of AS have implicated UBE3A in experience-dependent synaptic remodeling.

Keywords: Angelman syndrome, chromosome 15q11-13, UBE3A, imprinting

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