title: Familial deletion within NLGN4 associated with autism and Tourette syndrome.
abstract: Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.
authors.affiliation: Department of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Lawson-Yuen
authors.forename: Juan-Sebastian
authors.initials: JS
authors.lastname: Saldivar
authors.forename: Steve
authors.initials: S
authors.lastname: Sommer
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D015816:Cell Adhesion Molecules, Neuronal; D002648:Child; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D015816:Cell Adhesion Molecules, Neuronal; D008565:Membrane Proteins; C430845:NLGN4X protein, human