Prader-Willi/Angelman syndrome

Brilliant, M. H. (1992). The mouse pink-eyed dilution locus—a model for aspects of Prader-Willi-syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Mamm. Genome 3 187-191. 

Local chromatin-modifying activities Acetylation of histones increases gene expression (many genes) Methylation of DNA silences genes in genetic imprinting (Prader-Willi and Angelman syndromes)... 

The Inheritance of a deletion on chromosome IS from a male produces Prader-Willi syndrome, whereas inheritance of the same deletion from a female produces Angelman syndrome. 

Other important diseases caused by deletions include Williams syndrome, Wolf-Hirschhorn syndrome, DiCeorge syndrome, Wilms tumor, and the Prader-Willi and Angelman syndromes (see Chapter )) ... 

The imprinted region of chromosome 15 contains about 8 genes, one of which is responsible, when broken, for Angelman syndrome—a gene called UBE3A. Beside this gene are the two top candidates for the Prader-Willi syndrome when broken one called the SNRPN gene and the other called IPW. 

Angelman and Prader-Willi syndromes are related disorders affecting genes on chromosome 15 by which of the following epigenetic mechanisms ... 

Cassidy, S.B. and Schwartz, S. (1998) Prader-Willi and Angelman syndromes disorders of genomic imprinting. Medicine 77 140-151. 

TABLE 40-2 Molecular Mechanisms and Tests for Prader-Willi and Angelman Syndromes ... 

Molecular Mechanism Angelman Syndrome (Frequency) Prader-Willi Syndrome (Frequency) Methylation-Specific PCR Result Possible Detection Methods... 

Monaghan KG, Wiktor A, Van Dyke DL. Diagnostic testing for Prader-Willi syndrome and Angelman syndrome a cost comparison. Genet in Med 2002 4 448-50. 

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes Specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 35 333-349. 

Nicholls RD, Knepper JL (2001) Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2 153-175. 

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