Document Detail

Autism-lessons from the X chromosome.
MedLine Citation:
PMID:  18985105     Owner:  NLM     Status:  MEDLINE    
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.
Elysa J Marco; David H Skuse
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Social cognitive and affective neuroscience     Volume:  1     ISSN:  1749-5024     ISO Abbreviation:  Soc Cogn Affect Neurosci     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2010-03-25     Completed Date:  2010-06-08     Revised Date:  2013-06-04    
Medline Journal Info:
Nlm Unique ID:  101288795     Medline TA:  Soc Cogn Affect Neurosci     Country:  England    
Other Details:
Languages:  eng     Pagination:  183-93     Citation Subset:  IM    
Behavioral and Brain Sciences Unit, Institute of Child Health, London, UK.
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MeSH Terms
Autistic Disorder / genetics*
Child, Preschool
Chromosomes, Human, X / genetics*
Cognition Disorders / diagnosis,  epidemiology
Methyl-CpG-Binding Protein 2 / genetics
Point Mutation / genetics
Psychomotor Disorders / epidemiology,  genetics
Sex Chromosomes / genetics
Sex Factors
Reg. No./Substance:
0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2

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