Abstract
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay and speech impairment, gait ataxia and/or tremulousness of limbs, microcephaly, seizures, and a unique behavior with a happy demeanor that includes frequent laughing, smiling, and excitability. AS is caused by disruption of UBE3A, which encodes E6AP ubiquitin protein ligase. UBE3A shows parent-specific differential expression, or imprinting, limited to brain and spinal cord neurons. AS results from several genetic mechanisms that disrupt the functional allele of UBE3A inherited from the mother. Analysis of parent specific DNA methylation imprints in the critical 15q11.2-q13 genomic region identifies approximately 75–80% of all individuals, including those with cytogenetic deletions, imprinting center defects, and paternal uniparental disomy (UPD). Accordingly, diagnosis may rely on several diagnostic genetic tests. Therapeutic approaches are now focused on the manipulation of related protein pathways of UBE3A and unsilencing of the paternal allele.
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