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dc.contributor.authorMarco, Elysa J.
dc.contributor.authorSkuse, David H.
dc.date.accessioned2019-10-24T19:19:56Z
dc.date.available2019-10-24T19:19:56Z
dc.date.created2017-02-28 01:23
dc.date.issued2006-12
dc.identifieroai:pubmedcentral.nih.gov:2555419
dc.identifier/pmc/articles/PMC2555419/
dc.identifier/pubmed/18985105
dc.identifierhttp://dx.doi.org/10.1093/scan/nsl028
dc.identifier.urihttp://hdl.handle.net/20.500.12424/1031647
dc.description.abstractRecognized 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.
dc.languageen
dc.language.isoeng
dc.publisherOxford University Press
dc.rights© The Author (2006). Published by Oxford University Press. For Permissions, please email: journals.permissions@oxfordjournals.org
dc.subjectSpecial Issue Articles
dc.titleAutism-lessons from the X chromosome
dc.typeText
ge.collectioncodeOAIDATA
ge.dataimportlabelOAI metadata object
ge.identifier.legacyglobethics:10670636
ge.identifier.permalinkhttps://www.globethics.net/gtl/10670636
ge.lastmodificationdate2017-02-28 01:23
ge.lastmodificationuseradmin@pointsoftware.ch (import)
ge.submissions0
ge.oai.exportid149001
ge.oai.repositoryid1570
ge.oai.setnameSocial Cognitive and Affective Neuroscience
ge.oai.setspecscan
ge.oai.streamid5
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ge.linkhttps://dx.doi.org/10.1093/scan/nsl028


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