Document Detail

Transmission disequilibrium study of an oligodendrocyte and myelin glycoprotein gene allele in 431 families with an autistic proband.
MedLine Citation:
PMID:  17897745     Owner:  NLM     Status:  MEDLINE    
Autistic disorder is a neurodevelopmental disorder where genetic factors play an important role. We previously described an association between a subgroup of French autistic patients and an allele of a non-synonymous single nucleotide polymorphism (nsSNP: OMGP62 G>A or rs11080149) in the gene coding for the oligodendrocyte and myelin glycoprotein (OMG), located at 7Mb from the marker D17S250, linked to autism in two independent genome scan studies. We report a study on 431 families with 1 affected child from different origins: French Canada (n=262), Italy (n=123) and United States (n=46). We analyzed the transmission of the rs11080149 alleles from parents to their affected children. There was a preferential transmission of the G allele from parents to affected children (p=0.0017) in the overall sample. Paternal and maternal transmission rates were both skewed. Taking into account our previous results obtained in a French group of patients, where we observed an association with allele A, a direct role of this polymorphism is improbable in autism. The associations observed in Japanese and French patients, the linkage studies and the present work speak in favor of the existence of a susceptibility gene for autism in the NF1 locus.
Isabelle Martin; Julie Gauthier; Marcello D'Amelio; Sylviane Védrine; Patrick Vourc'h; Guy A Rouleau; Antonio M Persico; Christian R Andres
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-08-19
Journal Detail:
Title:  Neuroscience research     Volume:  59     ISSN:  0168-0102     ISO Abbreviation:  Neurosci. Res.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-05     Completed Date:  2008-01-11     Revised Date:  2012-02-24    
Medline Journal Info:
Nlm Unique ID:  8500749     Medline TA:  Neurosci Res     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  426-30     Citation Subset:  IM    
INSERM, U619, Université François-Rabelais de Tours, CHRU de Tours, Faculté de Médecine, 10 Boulevard Tonnellé, BP3223, 37032, Tours Cedex, France.
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MeSH Terms
Autistic Disorder / ethnology,  genetics*,  metabolism*
Brain Chemistry / genetics*
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 17 / genetics
Continental Population Groups
DNA Mutational Analysis
Ethnic Groups
GPI-Linked Proteins
Gene Frequency / genetics
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing
Inheritance Patterns / genetics
Linkage Disequilibrium / genetics*
Myelin Proteins
Myelin-Associated Glycoprotein / genetics*
United States
Grant Support
Reg. No./Substance:
0/GPI-Linked Proteins; 0/Genetic Markers; 0/Myelin Proteins; 0/Myelin-Associated Glycoprotein; 0/OMG protein, human; 0/myelin oligodendrocyte glycoprotein

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