X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family - Archive ouverte HAL Accéder directement au contenu
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 Gomot
  • Fonction : Auteur
Marie-Pierre Moizard
  • Fonction : Auteur
Martine Raynaud
  • Fonction : Auteur
Nathalie Ronce
  • Fonction : Auteur
Eric Lemonnier
  • Fonction : Auteur
Patrick Calvas
  • Fonction : Auteur
Béatrice Laudier
  • Fonction : Auteur
Christian Andres
  • Fonction : Auteur
Catherine Barthélémy
  • Fonction : Auteur
  • PersonId : 885882
  • IdRef : 033754209
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.

Domaines

Génétique

Dates et versions

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

Identifiants

Citer

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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