Prader-Willi syndrome and Angelman syndrome.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most frequent genetic lesions in both disorders are a de novo deletion of the chromosomal region 15q11q13, uniparental disomy 15, an imprinting defect or, in the case of AS, a mutation of the UBE3A gene. Microdeletions in a small number of patients with PWS and AS have led to the identification of the chromosome 15 imprinting center (IC). The IC consists of two critical elements, which act in cis to regulate imprinting in the whole chromosome 15q11q13 imprinted domain.
Buiting
Karin
K
Institute of Human Genetics at the University Hospital Essen, Essen, Germany. karin.buiting@uni-due.de
D017204:Angelman Syndrome / Q000235:genetics*; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D015870:Gene Expression; D018392:Genomic Imprinting; D006801:Humans; D005810:Multigene Family; D011218:Prader-Willi Syndrome / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D024182:Uniparental Disomy
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases