Article Dans Une Revue American Journal of Human Genetics Année : 2004

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier
  • Fonction : Auteur
Marie-Pierre Moizard
  • Fonction : Auteur
Martine Raynaud
Nathalie Ronce
  • Fonction : Auteur
Eric Lemonnier
Patrick Calvas
  • Fonction : Auteur
Béatrice Laudier
  • Fonction : Auteur
Jamel Chelly
Christian Andres
Claude Moraine
  • Fonction : Auteur
Sylvain Briault
  • Fonction : Auteur

Résumé

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.

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Dates et versions

hal-04142549 , version 1 (27-06-2023)

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Frédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, Romuald Blanc, Albert David, et al.. X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family. American Journal of Human Genetics, 2004, 74 (3), pp.552-557. ⟨10.1086/382137⟩. ⟨hal-04142549⟩
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