Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

oleh: Pichet Termsarasab, Amy C. Yang, Jennifer Reiner, Hui Mei, Stuart A. Scott, Steven J. Frucht

Format: Article
Diterbitkan: Ubiquity Press 2014-11-01

Deskripsi

<p><strong>Background</strong>: Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include PRRT2.</p><p><strong> Case Report</strong>: We describe a fifth patient with PKD, features of Asperger&rsquo;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.</p><p><strong> Discussion</strong>: 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.</p>