title: Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.
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.
authors.affiliation: Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Donnelly
authors.forename: C M
authors.initials: CM
authors.lastname: Wolpert
authors.forename: M M
authors.initials: MM
authors.lastname: Menold
authors.forename: M P
authors.initials: MP
authors.lastname: Bass
authors.forename: J R
authors.initials: JR
authors.lastname: Gilbert
authors.forename: M L
authors.initials: ML
authors.lastname: Cuccaro
authors.forename: G R
authors.initials: GR
authors.lastname: Delong
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D005260:Female; D018392:Genomic Imprinting; D006239:Haplotypes; D006801:Humans; D009035:Mothers; D010375:Pedigree; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*