Case Reports
Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
Authors:
- Pichet TermsarasabEmail Pichet Termsarasab
- Amy C. Yang
- Jennifer Reiner
- Hui Mei
- Stuart A. Scott
- Steven J. Frucht
Abstract
Background: Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2.
Case Report: We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the PRRT2 gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomic hybridization (aCGH) detected a 533.9-kb deletion on chromosome 16, encompassing over 20 genes and transcripts.
Discussion: This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.
- Year: 2014
- Volume: 4
- Page/Article: 274
- DOI: 10.5334/tohm.212
- Submitted on 24 Sep 2014
- Accepted on 13 Oct 2014
- Published on 17 Nov 2014
- Peer Reviewed