Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome

Am J Med Genet. 1996 Sep 20;67(5):478-82. doi: 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G.


To assess whether sleep abnormalities are related to the genetic abnormalities in Prader-Willi Syndrome (PWS), we performed polysomnographic studies (nighttime and daytime) and determined the chromosome 15 genotypes in eight patients with PWS. Four patients demonstrated sleep onset REM periods (SOREM), and five met the objective polysomnographic criteria for severe or moderate excessive daytime sleepiness (EDS). Three of the four patients with SOREM displayed a paternally derived deletion of chromosome 15q11-q13, whereas the fourth exhibited maternal uniparental heterodisomy in this chromosomal region (UPD). Two of the four patients that did not display SOREM carried paternally derived deletions; the remaining two demonstrated UPD. Four of the five patients with EDS displayed paternal deletions, and the fifth exhibited UPD. One of three patients without evidence of EDS demonstrated paternal deletion; the remaining two showed UPD. Although neither EDS nor SOREM was not consistently associated with a specific genetic abnormality, these phenotypes may be more common in patients with paternal deletions than in those UPD. Sleep abnormalities in PWS cannot be explained by a single genetic model.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Circadian Rhythm
  • Female
  • Gene Deletion
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Observer Variation
  • Polymorphism, Genetic
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / physiopathology*
  • Respiration
  • Sleep / genetics*
  • Sleep / physiology
  • Sleep Wake Disorders / genetics*
  • Sleep, REM


  • Genetic Markers