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Prader-Willi syndrome

Definition:

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.

References:

[1]. 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]

[2]. C D Kuslich, et al. Prader-Willi syndrome is caused by disruption of the SNRPN gene. Am J Hum Genet. 1999 Jan;64(1):70-6. [Content Brief]

[3]. Lisa C Neumann, et al. The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. Genome Biol Evol. 2014 Feb;6(2):344-51. [Content Brief]

[4]. Nichol L G Miller, et al. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Hum Mol Genet. 2009 Jan 15;18(2):248-60. [Content Brief]

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