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.
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Acknowledgements
We thank E. Percy, S. Cave, A. O'Herlihy, R. South, J. Smith, M. Power and D.Robinson for assistance; M. Pembrey for comments and discussion; many paediatric consultants for assisting with the recruitment of patients, the schools who participated, and all of the subjects of our investigation and their families for their time. This research was supported by the Wellcome Trust and the Child Growth Foundation. Compilation of the national register of Turner syndrome was supported by the British Society for Paediatric Endocrinology and by Pharmacia.
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Skuse, D., James, R., Bishop, D. et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387, 705–708 (1997). https://doi.org/10.1038/42706
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DOI: https://doi.org/10.1038/42706
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