Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 90, Issue 1, Pages 133-141Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.11.025
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Funding
- The Centre for Applied Genomics, Genome Canada
- Ontario Genomics Institute
- Canadian Institutes for Health Research
- Canadian Institute for Advanced Research
- McLaughlin Centre
- Canada Foundation for Innovation
- Ontario Ministry of Research and Innovation
- Autism Speaks
- NeuroDevNet
- Hospital for Sick Children Foundation
- Ontario Ministry of Education and Training
- Medical Research Council [G9817803B] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10268] Funding Source: researchfish
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The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.
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