Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

L. D’Abate, S. Walker, R. K. C. Yuen, K. Tammimies, J. A. Buchanan, R. W. Davies, B. Thiruvahindrapuram, J. Wei, J. Brian, S. E. Bryson, K. Dobkins, J. Howe, R. Landa, J. Leef, D. Messinger, S. Ozonoff, I. M. Smith, W. L. Stone, Z. E. Warren, G. Young, L. Zwaigenbaum and S. W. Scherer ()
Additional contact information
L. D’Abate: The Hospital for Sick Children
S. Walker: The Hospital for Sick Children
R. K. C. Yuen: The Hospital for Sick Children
K. Tammimies: The Hospital for Sick Children
J. A. Buchanan: The Hospital for Sick Children
R. W. Davies: The Hospital for Sick Children
B. Thiruvahindrapuram: The Hospital for Sick Children
J. Wei: The Hospital for Sick Children
J. Brian: Bloorview Research Institute and University of Toronto
S. E. Bryson: IWK Health Centre and Dalhousie University
K. Dobkins: UC San Diego
J. Howe: The Hospital for Sick Children
R. Landa: Kennedy Krieger Institute
J. Leef: Bloorview Research Institute and University of Toronto
D. Messinger: University of Miami
S. Ozonoff: MIND Institute, Department of Psychiatry, UC Davis
I. M. Smith: IWK Health Centre and Dalhousie University
W. L. Stone: University of Washington
Z. E. Warren: Vanderbilt Kennedy Center Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt Kennedy Centre
G. Young: MIND Institute, Department of Psychiatry, UC Davis
L. Zwaigenbaum: University of Alberta
S. W. Scherer: The Hospital for Sick Children

Nature Communications, 2019, vol. 10, issue 1, 1-9

Abstract: Abstract Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

Date: 2019
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DOI: 10.1038/s41467-019-13380-2

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