Female with autistic disorder and monosomy X (Turner syndrome): Parent- of-origin effect of the X chromosome

Shannon L. Donnelly, Chantelle M. Wolpert, Marisa M. Menold, Meredyth P. Bass, John R. Gilbert, Michael L. Cuccaro, G. Robert DeLong, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

57 Scopus citations

Abstract

We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview - Revised. The patient exhibited both social and verbal deficits and manifested the classical physical features associated with monosomy X. Skuse et al. [1997: Nature 387:705-708] reported three such cases of AD and monosomy X in their study of Turner syndrome and social cognition. They observed that monosomy X females with a maternally inherited X chromosome had reduced social cognition when compared with monosomy X females with a paternally inherited X chromosome. All three cases of AD and monosomy X were maternally inherited. Based on their data, they suggested that there was a gene for social cognition on the X chromosome that is imprinted and not expressed when the X chromosome is of maternal origin. Thus, we conducted parent-of-origin studies in our AD/monosomy X patient by genotyping X chromosome markers in the patient and her family. We found that the patient's X chromosome was of maternal origin. These findings represent the fourth documented case of maternal inheritance of AD and monosomy X and provide further support for the hypothesis that parent-of-origin of the X chromosome influences social cognition. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)312-316
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number3
DOIs
StatePublished - Jun 12 2000

Keywords

  • Autistic disorder
  • Imprinting
  • Social cognition
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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