Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

D. H. Skuse (), R. S. James, D. V. M. Bishop, B. Coppin, Patricio Dalton (), G. Aamodt-Leeper, M. Bacarese-Hamilton, C. Creswell, R. McGurk and P. A. Jacobs
Additional contact information
D. H. Skuse: *Behavioural Sciences Unit, Institute of Child Health
R. S. James: †Wessex Regional Genetics Laboratory, Salisbury District Hospital
D. V. M. Bishop: ‡MRC Applied Psychology Unit
B. Coppin: §Wessex Regional Genetics Service, Princess Anne Hospital
G. Aamodt-Leeper: *Behavioural Sciences Unit, Institute of Child Health
M. Bacarese-Hamilton: *Behavioural Sciences Unit, Institute of Child Health
C. Creswell: *Behavioural Sciences Unit, Institute of Child Health
R. McGurk: *Behavioural Sciences Unit, Institute of Child Health
P. A. Jacobs: †Wessex Regional Genetics Laboratory, Salisbury District Hospital

Nature, 1997, vol. 387, issue 6634, 705-708

Abstract: Abstract Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted1. Intelligence is usually normal2 but social adjustment problems are common3. 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,Xm) and in 25 it was of paternal origin (45,Xp). Members of the 45,Xp group were significantly better adjusted, with superior verbal and higher-order executive function skills, which mediate social interactions4. Our observations suggest that there is a genetic locus for social cognition, which is imprinted5 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 chromosome6 indicate that the putative imprinted locus escapes X-inactivation7, 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 females8.

Date: 1997
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DOI: 10.1038/42706

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