title: Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.
abstract: Although it is well established that genetic factors play an important role in the etiology of autistic disorder (AD), no specific genes have as yet been implicated. Genetic epidemiological data, particularly the sharp fall in concordance rates from monozygotic to dizygotic twins, indicate that the mode of transmission of this disorder is complex and may involve several genes. The 7q31 locus has been repeatedly linked to AD, suggesting that this chromosomal region is likely to harbor a susceptibility gene for AD. Recently, variations in the FOXP2 gene were reported to be responsible for a severe speech and language disorder. Because of the chromosomal location of FOXP2 (7q31) and the putative implication of the 7q31 region both in autistic and in language disorders (a feature of AD), it has been hypothesized that FOXP2 may be implicated in the pathophysiology of AD. To test this hypothesis, we screened the FOXP2 gene coding sequence for mutations in subjects diagnosed with AD and in normal controls. We identified four silent polymorphisms that were equally distributed between patients and controls. Using an intra-family association design, we identified no transmission disequilibrium in any of the four identified alleles, suggesting that the FOXP2 gene does not play a significant role in AD.
authors.affiliation: Research Institute of the McGill University Health Center, 1650 Cedar Ave, Montreal, Canada.
authors.forename: Julie
authors.initials: J
authors.lastname: Gauthier
authors.forename: Ridha
authors.initials: R
authors.lastname: Joober
authors.forename: Laurent
authors.initials: L
authors.lastname: Mottron
authors.forename: Sandra
authors.initials: S
authors.lastname: Laurent
authors.forename: Marketa
authors.initials: M
authors.lastname: Fuchs
authors.forename: Violaine
authors.initials: V
authors.lastname: De Kimpe
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000293:Adolescent; D000483:Alleles; D019943:Amino Acid Substitution; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D051858:Forkhead Transcription Factors; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012097:Repressor Proteins / Q000235:genetics*; D014157:Transcription Factors
chemical_list: C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors; D004247:DNA