05:03pm Wednesday 19 February 2020

New Study Supports Importance of Structural Variation in Autism Spectrum Disorders

Led by Margaret A. Pericak-Vance, Ph.D., associate dean for human genomic programs, Dr. John T. Macdonald Foundation professor of human genomics, and director of the John P. Hussman Institute for Human Genomics; John R. Gilbert, Ph.D., professor of human genetics; and Dale Hedges, Ph.D., assistant professor of human genetics, this unique study using high-resolution arrays to detect changes in DNA structure as small as 1,000 base pairs (the total human genome is estimated to be 3.2 billion base pairs) further strengthens the case that rare structural variants at multiple genes contribute to autism spectrum disorders.

Published on World Autism Day, 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 the NRXN1 gene in autistic versus non-autistic individuals and detected potential variants related to autism spectrum disorder in other genes.

Noting the timeliness of the study, Pericak-Vance said, “We hope this research helps increase awareness about this complex disorder.”
The paper also was highlighted on the journal’s blog site to honor World Autism Day.

These results provide further strong evidence of a role for NRXN1 disruption in autism spectrum disorder, 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 significant information about autism genetic risk factors.

Other UM investigators on the paper include: Kara L. Hamilton-Nelson, M.P.H., project manager for research support; Stephanie J. Sacharow, M.D., clinical assistant professor of human genetics; Laura Nations, M.A., research data manager; Gary W. Beecham, Ph.D., assistant professor of human genetics; Zhanna M. Kozhekbaeva, Ph.D., research associate; Brittany L. Butler, technician; Holly N. Cukier, Ph.D., post-doctoral research associate; Patrice L. Whitehead, B.S., research laboratory director; Deqiong Ma, M.D., research assistant professor; James M. Jaworski, analytical project manager, research support; Lubov Nathanson, Ph.D., director of research support; and Joycelyn M. Lee, Ph.D., associate research scientist.

University of Miami

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