Nothing to declare.
Autism spectrum disorder in the genetics clinic: a review
Article first published online: 21 FEB 2013
© 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 5, pages 399–407, May 2013
How to Cite
Autism spectrum disorder in the genetics clinic: a review., .
- Issue published online: 5 APR 2013
- Article first published online: 21 FEB 2013
- Manuscript Revised: 14 JAN 2013
- Manuscript Accepted: 14 JAN 2013
- Manuscript Received: 13 NOV 2012
- University of Toronto McLaughlin Centre
- autism spectrum disorder;
- copy number variant;
- genetic testing;
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next-generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.