title: Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.
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.
authors.forename: Harm
authors.initials: H
authors.lastname: Boer
authors.forename: Anthony
authors.initials: A
authors.lastname: Holland
authors.forename: Joyce
authors.initials: J
authors.lastname: Whittington
authors.forename: Jill
authors.initials: J
authors.lastname: Butler
authors.forename: Tessa
authors.initials: T
authors.lastname: Webb
authors.forename: David
authors.initials: D
authors.lastname: Clarke
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004739:England / Q000453:epidemiology; D005260:Female; D017353:Gene Deletion; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D008297:Male; D009017:Morbidity; D009154:Mutation / Q000235:genetics; D011159:Population Surveillance; D011218:Prader-Willi Syndrome / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D011618:Psychotic Disorders / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology*; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics*