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

Nature. 1997 Jun 12;387(6634):705-8. doi: 10.1038/42706.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cognition*
  • Female
  • Genetic Linkage
  • Genomic Imprinting*
  • Humans
  • Karyotyping
  • Male
  • Neuropsychological Tests
  • Social Behavior
  • Turner Syndrome / genetics*
  • Turner Syndrome / physiopathology
  • Turner Syndrome / psychology
  • X Chromosome*