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NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.

Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA

Research Institute of the McGill University, Health Center, Cedar Ave, Montreal, H3G 1A4, Canada.

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.

Published 3 February 2005 in Am J Med Genet B Neuropsychiatr Genet, 132(1): 74-5.
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