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.
This abstract and the presentation materials are available to members only;
a login is required.
Join Here
