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

Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):74-5. doi: 10.1002/ajmg.b.30066.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Autistic Disorder / genetics*
  • Carrier Proteins / genetics*
  • Cell Adhesion Molecules, Neuronal
  • Child
  • Female
  • France / ethnology
  • Gene Frequency
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Quebec
  • Surveys and Questionnaires


  • Carrier Proteins
  • Cell Adhesion Molecules, Neuronal
  • Membrane Proteins
  • NLGN4X protein, human
  • Nerve Tissue Proteins
  • neuroligin 3