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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Abstract
A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.
AuthorsFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie-Pierre Moizard, Martine Raynaud, Nathalie Ronce, Eric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean-Pierre Fryns, Hans-Hilger Ropers, Ben C J Hamel, Christian Andres, Catherine Barthélémy, Claude Moraine, Sylvain Briault
JournalAmerican journal of human genetics (Am J Hum Genet) Vol. 74 Issue 3 Pg. 552-7 (Mar 2004) ISSN: 0002-9297 [Print] United States
PMID14963808 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Carrier Proteins
  • Cell Adhesion Molecules, Neuronal
  • Membrane Proteins
  • NLGN4X protein, human
Topics
  • Adolescent
  • Adult
  • Autistic Disorder (genetics)
  • Carrier Proteins (genetics)
  • Cell Adhesion Molecules, Neuronal
  • Child
  • Child, Preschool
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Membrane Proteins (genetics)
  • Mental Retardation, X-Linked (genetics)
  • Mutation
  • Pedigree

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