Rare deletions at the neurexin 3 locus in autism spectrum disorder

Andrea K. Vaags, Anath C. Lionel, Daisuke Sato, McKinsey Goodenberger, Quinn P. Stein, Sarah Curran, Caroline Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman, Christina Chrysler, Ann Thompson, Carolyn Russell, Aparna Prasad, Susan Walker, Dalila Pinto, Christian R. Marshall, Dimitri J. Stavropoulos, Lonnie Zwaigenbaum, Bridget A. FernandezEric Fombonne, Patrick F. Bolton, David A. Collier, Jennelle C. Hodge, Wendy Roberts, Peter Szatmari, Stephen W. Scherer

Research output: Contribution to journalArticlepeer-review

170 Scopus citations


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.

Original languageEnglish
Pages (from-to)133-141
Number of pages9
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 13 Jan 2012
Externally publishedYes


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