Title: 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 #
Issue Date: Feb-2004
Series Title: American Journal of Human Genetics vol:74 issue:3 pages:552-7
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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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