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, P. Dalton, G. Aamodt-Leeper, M. Bacarese-Hamilton, C. Creswell, R. McGurk, P. A. Jacobs

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599 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)705-708
Number of pages4
Issue number6634
Publication statusPublished - 12 Jun 1997
Externally publishedYes


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