Angelman syndrome

Definition:

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.

References:

[1]. Angela M Mabb, et al. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 2011 Jun;34(6):293-303. [Content Brief]

[2]. Bernhard Horsthemke, et al. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A. 2008 Aug 15;146A(16):2041-52. [Content Brief]

[3]. Paul L Greer, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell. 2010 Mar 5;140(5):704-16. [Content Brief]

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