Elsevier

Neuroscience Letters

Volume 438, Issue 3, 27 June 2008, Pages 368-370
Neuroscience Letters

Neurexin 1α structural variants associated with autism

https://doi.org/10.1016/j.neulet.2008.04.074Get rights and content

Abstract

Neurexins are presynaptic membrane cell-adhesion molecules which bind to neuroligins, a family of proteins that are associated with autism. To explore the possibility that structural variants in the neurexin α genes predispose to autism, the coding regions and associated splice junctions of the neurexin 1α gene were sequenced in 116 Caucasian patients with autism and 192 Caucasian controls. Five ultra-rare structural variants including a predicted splicing mutation were found in patients with autism and absent in 10,000 control alleles. Only one ultra-rare structural variant was found in controls (5/116 vs. 1/192; P = 0.03, Fisher's exact test, one-sided). In the context of all available data, the ultra-rare structural variants of the neurexin 1α gene are consistent with mutations predisposing to autism.

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Acknowledgements

We would like to thank the families who participated in the South Carolina Autism Project. This research was supported, in part, by a grant from the South Carolina Department of Disabilities and Special Needs. Dedicated to the memory of Ethan Francis Schwartz 1996–1998.

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