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Abstract #1286

Reciprocal alterations of white matter microstructure in carriers of deletions versus duplications at the 16p11.2 chromosomal locus are associated with cognitive and behavioral impairment

Yi-Shin Chang 1 , Julia P Owen 1 , Tony Thieu 1 , Nicholas Pojman 1 , Polina Bukshpun 1 , Mari Wakahiro 1 , Elysa Marco 1 , Jeffrey Berman 2 , John E Spiro 3 , Wendy Chung 4 , Randy Buckner 5 , Timothy Roberts 2 , Srikantan Nagarajan 1 , Elliott Sherr 1 , and Pratik Mukherjee 1

1 University of California in San Francisco, San Francisco, California, United States, 2 Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 3 Simons Foundation, New York, New York, United States, 4 Columbia University, New York, New York, United States, 5 Harvard University, Boston, Massachusetts, United States

Copy number variants (CNVs) at the 16p11.2 chromosomal locus are associated with several neuropsychiatric disorders, including autism, schizophrenia, and bipolar disorder. In this study, we demonstrate widespread and opposing white matter alterations in pediatric and adult human carriers of the 16p11.2 deletion versus the reciprocal duplication. We further show associations of cognitive and behavioral impairment with deviation in either direction from normative microstructural white matter values. These results support the view that specific genetic variations may be more strongly associated with changes in brain structure, including macrostructure and microstructure, than shared neuropsychiatric diagnoses.

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