Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.


Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Autoantigens / genetics
  • Child, Preschool
  • Chromosome Breakage
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15 / genetics*
  • Female
  • Genomic Imprinting*
  • Humans
  • Male
  • Nuclear Proteins / genetics
  • Pedigree
  • Prader-Willi Syndrome / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA, Small Nucleolar / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Ribonucleoproteins, Small Nuclear / genetics
  • Transcription, Genetic
  • snRNP Core Proteins


  • Autoantigens
  • Nuclear Proteins
  • RNA, Messenger
  • RNA, Small Nucleolar
  • Ribonucleoproteins, Small Nuclear
  • SNRPN protein, human
  • SNURF protein, human
  • snRNP Core Proteins