Research out of the Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine supports the importance of structural variation in autism spectrum disorder (ASD). This unique study, by led by Margaret A. Pericak-Vance, Ph.D., John R. Gilbert, Ph.D., and Dale Hedges, Ph.D., used high-resolution arrays to detect changes in DNA structure as small as one thousand base pairs, further strengthens the case that rare structural variants at multiple genes contribute to autism spectrum disorders.
Published April 2 in the online edition of the journal Molecular Autism, the study, “Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci,” reported statistically significant enrichment of rare exonic deletions in NRXN1 in autistic versus non-autistic individuals and detected potential ASD related variants in other genes.
These results provide further strong evidence supporting a role for NRXN1 disruption in ASD, and highlight that disruptions can occur on scales that may cause them to be missed by lower-resolution screening techniques. Given that researchers have effectively been blind to these smaller scale structural events until relatively recently, these results offer the promise that high-resolution arrays and deep whole-genome sequencing will unlock a treasure trove of information about ASD genetic risk factors.