Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):220-1. doi: 10.1002/ajmg.b.30287.


Neuroligin abnormalities have been recently implicated in the aetiology of autism spectrum disorders (ASD), given the finding of point mutations in the two X-linked genes NLGN3 and NLGN4X and the important role of neuroligins in synaptogenesis. To enquire on the relevance and frequency of neuroligin mutations in ASD, we performed a mutation screening of NLGN3 and NLGN4X in a sample of 124 autism probands from the International Molecular Genetic Study of Autism Consortium (IMGSAC). We identified a new non-synonymous variant in NLGN3 (Thr632Ala), which is likely to be a rare polymorphism. Our data indicate that coding mutations in these genes are very rarely associated to ASD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Carrier Proteins / genetics*
  • Cell Adhesion Molecules, Neuronal
  • Chromosomes, Human, X / genetics*
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Genetic Linkage
  • Humans
  • International Cooperation
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Mutation, Missense
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Registries


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