Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]
GeneCards Summary for ANCR Gene
ANCR (Angelman Syndrome Chromosome Region) is a Genetic Locus. Diseases associated with ANCR include angelman syndrome and prader-willi syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway.