Psychotic Illness in People With Prader Willi Syndrome Due to Chromosome 15 Maternal Uniparental Disomy

Lancet. 2002 Jan 12;359(9301):135-6. doi: 10.1016/S0140-6736(02)07340-3.

Abstract

In a population-based study of Prader Willi syndrome (PWS), we investigated the relation between genetic subtypes of the syndrome and psychiatric morbidity. Of 25 patients aged 18 years or older, seven (28%) had severe affective disorder with psychotic features, with a mean age of onset of 26 years (SD 5.9). The seven people affected, all aged 28 years or older, included all five with disomies of chromosome 15, one with a deletion in this chromosome, and one with an imprinting centre mutation in the same chromosome. We postulate that in PWS, an abnormal pattern of expression of a sex-specific imprinted gene on chromosome 15 is associated with psychotic illness in early adult life.

Publication types

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

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 15 / genetics*
  • England / epidemiology
  • Female
  • Gene Deletion
  • Genomic Imprinting / genetics
  • Humans
  • Male
  • Morbidity
  • Mutation / genetics
  • Population Surveillance
  • Prader-Willi Syndrome / classification
  • Prader-Willi Syndrome / complications*
  • Prader-Willi Syndrome / diagnosis
  • Prader-Willi Syndrome / genetics*
  • Psychiatric Status Rating Scales
  • Psychotic Disorders / diagnosis
  • Psychotic Disorders / epidemiology*
  • Psychotic Disorders / etiology*
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*