De Novo and Rare Inherited Copy-Number Variations in the Hemiplegic Form of Cerebral Palsy

Authors

Mehdi Zarrei, The Hospital for Sick Children
Darcy L Fehlings, University of Toronto
Karizma Mawjee, University of Toronto
Lauren Switzer, University of Toronto
Bhooma Thiruvahindrapuram, The Hospital for Sick Children
Susan Walker, The Hospital for Sick Children
Daniele Merico, The Hospital for Sick Children
Guillermo Casallo, The Hospital for Sick Children
Mohammed Uddin, The Hospital for Sick Children
Jeffrey R MacDonald, The Hospital for Sick Children
Matthew J Gazzellone, The Hospital for Sick Children
Edward J Higginbotham, The Hospital for Sick Children
Craig Campbell, University of Western OntarioFollow
Gabrielle deVeber, University of Toronto
Pam Frid, Western University
Jan Willem Gorter, McMaster University
Carolyn Hunt, Grandview Children's Centre
Anne Kawamura, University of Toronto
Marie Kim, ErinoakKids Centre for Treatment and Development
Anna McCormick, Ottawa Children's Treatment Centre
Ronit Mesterman, McMaster University
Dawa Samdup, Hotel Dieu Hospital
Christian R Marshall, The Hospital for Sick Children
Dimitri J Stavropoulos
Richard F Wintle, The Hospital for Sick Children
Stephen W Scherer, The Hospital for Sick Children

Document Type

Article

Publication Date

2-2018

Journal

Genetics in Medicine

Volume

20

Issue

2

First Page

172

Last Page

180

URL with Digital Object Identifier

https://doi.org/10.1038/gim.2017.83

Abstract

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (