De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Authors

Mehdi Zarrei
Darcy L Fehlings
Karizma Mawjee
Lauren Switzer
Bhooma Thiruvahindrapuram
Susan Walker
Daniele Merico
Guillermo Casallo
Mohammed Uddin
Jeffrey R MacDonald
Matthew J Gazzellone
Edward J Higginbotham
Craig Campbell, Western UniversityFollow
Gabrielle deVeber
Pam Frid
Jan Willem Gorter
Carolyn Hunt
Anne Kawamura
Marie Kim
Anna McCormick
Ronit Mesterman
Dawa Samdup
Christian R Marshall
Dimitri J Stavropoulos
Richard F Wintle
Stephen W SchererFollow

Document Type

Article

Publication Date

8-3-2017

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 (

Notes

Article available at Genetics in Medicine, Vol. 20(2).

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

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 License.