title: Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.
abstract: Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. Here we report a study of 80 females with Turner's syndrome and a single X chromosome, in 55 of which the X was maternally derived (45,X[m]) and in 25 it was of paternal origin (45,X[p]). Members of the 45,X[p] group were significantly better adjusted, with superior verbal and higher-order executive function skills, which mediate social interactions. Our observations suggest that there is a genetic locus for social cognition, which is imprinted and is not expressed from the maternally derived X chromosome. Neuropsychological and molecular investigations of eight females with partial deletions of the short arm of the X chromosome indicate that the putative imprinted locus escapes X-inactivation, and probably lies on Xq or close to the centromere on Xp. If expressed only from the X chromosome of paternal origin, the existence of this locus could explain why 46,XY males (whose single X chromosome is maternal) are more vulnerable to developmental disorders of language and social cognition, such as autism, than are 46,XX females.
authors.affiliation: Behavioural Sciences Unit, Institute of Child Health, London, UK. dskuse@ich.ucl.ac.uk
authors.forename: D H
authors.initials: DH
authors.lastname: Skuse
authors.forename: R S
authors.initials: RS
authors.lastname: James
authors.forename: D V
authors.initials: DV
authors.lastname: Bishop
authors.forename: B
authors.initials: B
authors.lastname: Coppin
authors.forename: P
authors.initials: P
authors.lastname: Dalton
authors.forename: G
authors.initials: G
authors.lastname: Aamodt-Leeper
authors.forename: M
authors.initials: M
authors.lastname: Bacarese-Hamilton
authors.forename: C
authors.initials: C
authors.lastname: Creswell
authors.forename: R
authors.initials: R
authors.lastname: McGurk
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003071:Cognition; D005260:Female; D008040:Genetic Linkage; D018392:Genomic Imprinting; D006801:Humans; D007621:Karyotyping; D008297:Male; D009483:Neuropsychological Tests; D012919:Social Behavior; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D014960:X Chromosome