Familial deletion within NLGN4 associated with autism and Tourette syndrome

Eur J Hum Genet. 2008 May;16(5):614-8. doi: 10.1038/sj.ejhg.5202006. Epub 2008 Jan 30.


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.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / genetics*
  • Carrier Proteins / genetics*
  • Cell Adhesion Molecules, Neuronal
  • Child
  • Exons
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Tourette Syndrome / genetics*


  • Carrier Proteins
  • Cell Adhesion Molecules, Neuronal
  • Membrane Proteins
  • NLGN4X protein, human