Friday 20 November 2009

familial deletion within NLGN4 associated with autism and tourette

Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that apperars 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 the 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.



(This is not my family it was another study done in the USA)
but this does relate to my family, ie i have a brother with (XLI) autism and (ADHD) and Tourette syndrome.
And my son Chris and Stephen have a tick disorder wich means they could also have Tourette's, but this has not been diagnosed as yet.

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