Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

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  • Yi Shin Chang
    Department of Radiology and Biomedical Imaging University of California, San Francisco 185 Berry Street San Francisco California 94107
  • Julia P. Owen
    Department of Radiology and Biomedical Imaging University of California, San Francisco 185 Berry Street San Francisco California 94107
  • Nicholas J. Pojman
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Tony Thieu
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Polina Bukshpun
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Mari L.J. Wakahiro
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Elysa J. Marco
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Jeffrey I. Berman
    Department of Radiology Children's Hospital of Philadelphia Wood Bldg, Suite 2115 Philadelphia Pennsylvania 19104
  • John E. Spiro
    Simons Foundation 160 Fifth Avenue, 7th Floor New York New York 10010
  • Wendy K. Chung
    Departments of Pediatrics and Medicine Columbia University Medical Center New York New York 10032
  • Randy L. Buckner
    Center for Brain Science, Harvard University 52 Oxford Street Cambridge Massachusetts 02138
  • Timothy P.L. Roberts
    Department of Radiology Children's Hospital of Philadelphia Wood Bldg, Suite 2115 Philadelphia Pennsylvania 19104
  • Srikantan S. Nagarajan
    Department of Radiology and Biomedical Imaging University of California, San Francisco 185 Berry Street San Francisco California 94107
  • Elliott H. Sherr
    Department of Neurology University of California, San Francisco 675 Nelson Rising Lane San Francisco California 94158
  • Pratik Mukherjee
    Department of Radiology and Biomedical Imaging University of California, San Francisco 185 Berry Street San Francisco California 94107

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<jats:title>Abstract</jats:title><jats:p>Copy number variants at the 16p11.2 chromosomal locus are associated with several neuropsychiatric disorders, including autism, schizophrenia, bipolar disorder, attention‐deficit hyperactivity disorder, and speech and language disorders. A gene dosage dependence has been suggested, with 16p11.2 deletion carriers demonstrating higher body mass index and head circumference, and 16p11.2 duplication carriers demonstrating lower body mass index and head circumference. Here, we use diffusion tensor imaging to elucidate this reciprocal relationship in white matter organization, showing widespread increases of fractional anisotropy throughout the supratentorial white matter in pediatric deletion carriers and, in contrast, extensive decreases of white matter fractional anisotropy in pediatric and adult duplication carriers. We find associations of these white matter alterations with cognitive and behavioral impairments. We further demonstrate the value of imaging metrics for characterizing the copy number variant phenotype by employing linear discriminant analysis to predict the gene dosage status of the study subjects. These results show an effect of 16p11.2 gene dosage on white matter microstructure, and further suggest that opposite changes in diffusion tensor imaging metrics can lead to similar cognitive and behavioral deficits. Given the large effect sizes found in this study, our results support the view that specific genetic variations are more strongly associated with specific brain alterations than are shared neuropsychiatric diagnoses. <jats:italic>Hum Brain Mapp 37:2833–2848, 2016</jats:italic>. © <jats:bold>2016 Wiley Periodicals, Inc.</jats:bold></jats:p>

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