1. ¹Department of Genetics, Children's Hospital Boston, Boston, MA, USA
2. ²Department of Molecular Genetics, Clinical Molecular Diagnostic Laboratory, City of Hope, Duarte, CA, USA

Correspondence: Dr J Picker, Department of Genetics, Fegan 10, 300 Longwood Ave, Boston, MA 02115, USA. Tel: +1 617 355 4697; Fax: +1 617 730 0466; E-mail: jonathan.picker@childrens.harvard.edu

Received 18 April 2007; Revised 13 December 2007; Accepted 13 December 2007; Published online 30 January 2008.

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.