| Autism-lessons from the X chromosome. | |
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MedLine Citation:
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PMID: 18985105 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Elysa J Marco; David H Skuse |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Social cognitive and affective neuroscience Volume: 1 ISSN: 1749-5024 ISO Abbreviation: Soc Cogn Affect Neurosci Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2010-03-25 Completed Date: 2010-06-08 Revised Date: 2010-09-22 |
Medline Journal Info:
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Nlm Unique ID: 101288795 Medline TA: Soc Cogn Affect Neurosci Country: England |
Other Details:
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Languages: eng Pagination: 183-93 Citation Subset: IM |
Affiliation:
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Behavioral and Brain Sciences Unit, Institute of Child Health, London, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Autistic Disorder
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genetics* Child Child, Preschool Chromosomes, Human, X / genetics* Cognition Disorders / diagnosis, epidemiology Female Genotype Humans Male Methyl-CpG-Binding Protein 2 / genetics Phenotype Point Mutation / genetics Psychomotor Disorders / epidemiology, genetics Sex Chromosomes / genetics Sex Factors Syndrome |
| Chemical | |
Reg. No./Substance:
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0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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