title: Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.
abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by the loss of function of imprinted genes in 15q11-q13. The maternally expressed UBE3A gene is affected in AS. Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear. To examine the role of the HBII-52 snoRNA genes, we have reinvestigated an AS family with a submicroscopic deletion spanning UBE3A and flanking sequences. By fine mapping of the centromeric deletion breakpoint in this family, we have found that the deletion affects all of the 47 HBII-52 genes. Since the complete loss of the HBII-52 genes in family members who carry the deletion on their paternal chromosome is not associated with an obvious clinical phenotype, we conclude that HBII-52 snoRNA genes do not play a major role in PWS. However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany.
authors.forename: Maren
authors.initials: M
authors.lastname: Runte
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Bernhard
authors.initials: B
authors.lastname: Horsthemke
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
mesh_terms: D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D020537:RNA, Small Nucleolar / Q000235:genetics*
chemical_list: D020537:RNA, Small Nucleolar