| Title : NLGN3\/NLGN4 gene mutations are not responsible for autism in the Quebec population - Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| Author(s) : Gauthier J , Bonnel A , St-Onge J , Karemera L , Laurent S , Mottron L , Fombonne E , Joober R , Rouleau GA |
| Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 132B :74 , 2005 |
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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. |
| PubMedSearch : Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| PubMedID: 15389766 |
| Gene_locus related to this paper: human-NLGN4X |
| Mutation | L593F_human-NLGN4X |
| Gene_locus | human-NLGN4X |
| Family | Neuroligin |
| Disease | Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1 Neuroligin 4 Autism AUTSX2 Asperger syndrome ASPGX2 |
Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA (2005)
NLGN3\/NLGN4 gene mutations are not responsible for autism in the Quebec population
American Journal of Medicine Genet B Neuropsychiatr Genet
132B :74
Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA (2005)
American Journal of Medicine Genet B Neuropsychiatr Genet
132B :74