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Mutations Of The X-Linked Genes Encoding Neuroligins NLGN3 And NLGN4 Are Associated With Autism

 
  March, 31 2003 9:22
your information resource in human molecular genetics
 
     
Autism is characterized by impaired reciprocal social interaction and communication and stereotyped patterns of interests and activities. Asperger syndrome is characterized by higher cognitive abilities and more normal language function.

Many studies have supported a genetic etiology for autism. A Nature Genetics paper published online reports mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse. The authors hypothesize that a defect in NLGN3 or NLGN4 may abolish formation, stabilization or recognition of specific synapses essential for the communication processes that are deficient in individuals with autistic spectrum disorder.

Author contact:

Thomas Bourgeron
Laboratoire de Genetique Humaine et Fonctions Cognitives
Universite Paris 7
Institut National de la Santee r la Recherche Medicale E0021
Institu Pasteur
75015 Paris
France
E-mail: thomasb@pasteur.fr


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