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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 224730.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
Authors:Laumonnier, Frédéric; Bonnet-Brilhault, Frédérique; Gomot, Marie; Blanc, Romuald; David, Albert; Moizard, Marie-Pierre; Raynaud, Martine; Ronce, Nathalie; Lemonnier, Eric; Calvas, Patrick; Laudier, Béatrice; Chelly, Jamel; Fryns, Jean-Pierre; Ropers, Hans-Hilger; Hamel, Ben C. J.; Andres, Christian; Barthélémy, Catherine; Moraine, Claude; Briault, Sylvain
Date of Publication (YYYY-MM-DD):2004-02-12
Title of Journal:American Journal of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet
Issue / Number:3
Start Page:552
End Page:557
Copyright:© 2004 by The American Society of Human Genetics.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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 β-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.
Comment of the Author/Creator:Electronic-Database Information

Accession numbers and URLs for data presented herein are as follows:

* Ensembl Genome Browser, http://www.ensembl.org First citation in article
* GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for NLGN4 mRNA [accession numbers NM_020742 and AF376803]) First citation in article
* Kazusa DNA Research Institute, http://www.kazusa.or.jp/huge (for information about KIAA clones) First citation in article
* Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:NSERM U619—Génétique de l'Autisme et de la Déficience Mentale and 2INSERM U619—Service Explorations Fonctionnelles et Neurophysiologie en Pédopsychiatrie, CHU Bretonneau, Tours, France;
Service de Génétique Médicale, Institut de Biologie, CHU Hôtel Dieu, Nantes, France;
Centre Inter Régional d'Etude et de Ressource sur l'Autisme, Brest, France;
Service de Génétique, CHU Hôpital Purpan, Toulouse, France; INSERM U129—ICGM, CHU Cochin, Paris, France;
Center for Human Genetics, Leuven, Belgium;
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
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