Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Nat Genet. 2003 May;34(1):27-9. doi: 10.1038/ng1136.

Abstract

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Autistic Disorder / genetics*
  • Autistic Disorder / metabolism
  • Base Sequence
  • Brain / metabolism
  • Carrier Proteins / genetics*
  • Cell Adhesion Molecules, Neuronal
  • Chromosomes, Human, X / genetics*
  • DNA, Complementary / genetics
  • Female
  • Gene Expression Profiling
  • Genetic Linkage
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Homology, Amino Acid

Substances

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

Associated data

  • GENBANK/AF376802
  • GENBANK/AF376803
  • GENBANK/AF376804