Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion. (17th November 2014)

• Record Type: Journal Article
• Authors: Termsarasab, Pichet; Yang, Amy C.; Reiner, Jennifer; Mei, Hui; Scott, Stuart A.; Frucht, Steven J.
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 4(2014)
• Publication Date: 2014-11-17
• Subjects: Paroxysmal kinesigenic dyskinesia -- 16p11.2 microdeletion -- movement disorders; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D8N58K0Q
• Languages: English
• ISSNs: 2160-8288

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.