Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.
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.
Boer
Harm
H
Holland
Anthony
A
Whittington
Joyce
J
Butler
Jill
J
Webb
Tessa
T
Clarke
David
D
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*