title: NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.
abstract: Jamain [2003: Nat Genet 34:27-29] recently reported mutations in two neuroligin genes in sib-pairs affected with autism. In order to confirm these causative mutations in our autistic population and to determine their frequency we screened 96 individuals affected with autism. We found no mutations in these X-linked genes. These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.
authors.affiliation: Research Institute of the McGill University, Health Center, Cedar Ave, Montreal, H3G 1A4, Canada.
authors.forename: Julie
authors.initials: J
authors.lastname: Gauthier
authors.forename: Anna
authors.initials: A
authors.lastname: Bonnel
authors.forename: Judith
authors.initials: J
authors.lastname: St-Onge
authors.forename: Liliane
authors.initials: L
authors.lastname: Karemera
authors.forename: Sandra
authors.initials: S
authors.lastname: Laurent
authors.forename: Laurent
authors.initials: L
authors.lastname: Mottron
authors.forename: Eric
authors.initials: E
authors.lastname: Fombonne
authors.forename: Ridha
authors.initials: R
authors.lastname: Joober
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal; D002648:Child; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011792:Quebec; D011795:Surveys and Questionnaires
chemical_list: D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D008565:Membrane Proteins; C430845:NLGN4X protein, human; D009419:Nerve Tissue Proteins; C098004:neuroligin 3