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

Autor: Chantelle M. Wolpert, Margaret A. Pericak-Vance, John R. Gilbert, Marisa M. Menold, G. Robert DeLong, Meredyth P. Bass, Michael L. Cuccaro, S. L. Donnelly
Rok vydání: 2000
Předmět:
Zdroj: American Journal of Medical Genetics. 96:312-316
ISSN: 1096-8628
0148-7299
DOI: 10.1002/1096-8628(20000612)96:3<312::aid-ajmg16>3.0.co;2-8
Popis: 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-oforigin 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-oforigin of the X chromosome influences social cognition. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:312‐316, 2000.
Databáze: OpenAIRE
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