Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish (US)
JournalTremor and Other Hyperkinetic Movements
Volume2014
Issue number1
DOIs
StatePublished - Nov 17 2014
Externally publishedYes

Fingerprint

Language Development Disorders
Asperger Syndrome
Chromosomes, Human, Pair 16
Mutation
Comparative Genomic Hybridization
Intellectual Disability
Genes
Familial paroxysmal dystonia
Autism Spectrum Disorder

Keywords

  • 16p11.2 microdeletion
  • movement disorders
  • Paroxysmal kinesigenic dyskinesia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion. / Termsarasab, Pichet; Yang, Amy; Reiner, Jennifer; Mei, Hui; Scott, Stuart A.; Frucht, Steven J.

In: Tremor and Other Hyperkinetic Movements, Vol. 2014, No. 1, 17.11.2014.

Research output: Contribution to journalArticle

Termsarasab, Pichet ; Yang, Amy ; Reiner, Jennifer ; Mei, Hui ; Scott, Stuart A. ; Frucht, Steven J. / Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion. In: Tremor and Other Hyperkinetic Movements. 2014 ; Vol. 2014, No. 1.
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