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Social Cognitive and Affective Neuroscience Advance Access originally published online on October 20, 2006
Social Cognitive and Affective Neuroscience 2006 1(3):183-193; doi:10.1093/scan/nsl028
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© The Author (2006). Published by Oxford University Press. For Permissions, please email: journals.permissions@oxfordjournals.org

Autism-lessons from the X chromosome

Elysa J. Marco and David H. Skuse

Behavioral and Brain Sciences Unit, Institute of Child Health, London, UK

Recognized cases of autism spectrum disorders are on the rise. It is unclear whether this increase is attributable to secular trends in biological susceptibility, or to a change in diagnostic practices and recognition. One hint concerning etiological influences is the universally reported male excess (in the range of 4:1 to 10:1). Evidence suggests that genetic influences from the X chromosome play a crucial role in engendering this male vulnerability. In this review, we discuss three categories of genetic disease that highlight the importance of X-linked genes in the manifestation of an autistic phenotype: aneuploides (Turner syndrome and Klinefelter syndrome), trinucleotide expansions (Fragile X syndrome) and nucleotide mutations (Rett Syndrome, Neuroligins 3 & 4, and SLC6A8). The lessons from these diseases include an understanding of autistic features as a broad phenotype rather than as a single clinical entity, the role of multiple genes either alone or in concert with the manifestation of autistic features, and the role of epigenetic factors such as imprinting and X-inactivation in the expression of disease severity. Better understanding of the clinical phenotypes of social cognition and the molecular neurogenetics of X-linked gene disorders will certainly provide additional tools for understanding autism in the years to come.

Keywords: autism; X chromosome; social cognition; genetics

Correspondence should be addressed to: David H. Skuse, MD FRCP, Behavioral and Brain Sciences Unit, Institute of Child Health, 30 Guilford Street, London WC1N IEH, UK. E-mail: dskuse{at}ich.ucl.ac.uk.


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