Asperger's Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Asperger's Syndrome, including details on symptoms, diagnosis, treatment, medication.

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Lawson-Yuen A, Saldivar JS, Sommer S, Picker J

1Department of Genetics, Children's Hospital Boston, Boston, MA, USA.

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.European Journal of Human Genetics (2008) 16, 614-618; doi:10.1038/sj.ejhg.5202006; published online 30 January 2008.

Published 24 April 2008 in Eur J Hum Genet, 16(5): 614-8.
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