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Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion

Pichet Termsarasab1, Amy C Yang2, Jennifer Reiner2

  • 1Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|February 11, 2015
PubMed
Abstract

Insights

This study reports a patient with paroxysmal kinesigenic dyskinesia (PKD) and developmental delays, who had a 16p11.2 microdeletion but no PRRT2 mutation. This highlights the importance of chromosomal microarray analysis for diagnosing PKD in specific patient groups.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Pediatrics

Background:

  • Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder.
  • Previous reports linked PKD to PRRT2 gene mutations and 16p11.2 microdeletions.
  • Genetic underpinnings of PKD, especially in complex cases, require further elucidation.

Purpose of the Study:

  • To report a novel case of PKD associated with a 16p11.2 microdeletion.
  • To investigate the genetic basis of PKD in a patient lacking PRRT2 mutations.
  • To emphasize the diagnostic utility of chromosomal microarray analysis in PKD.

Main Methods:

  • Case report of a patient with PKD, Asperger's syndrome, and language delays.
  • Sanger sequencing of the PRRT2 gene.
  • Microarray-based comparative genomic hybridization (aCGH) to detect chromosomal abnormalities.

Main Results:

  • The patient presented with PKD and features of Asperger's syndrome and mild language delays.
  • No mutations were found in the PRRT2 gene.
  • aCGH identified a 533.9-kb deletion on chromosome 16, encompassing multiple genes.

Conclusions:

  • This case highlights a 16p11.2 microdeletion as a potential cause of PKD.
  • aCGH testing is crucial for patients with PKD lacking PRRT2 mutations, especially when co-occurring with developmental and autism spectrum disorders.
  • Genetic testing strategies for PKD should consider broader genomic analyses.
Keywords:
16p11.2 microdeletionParoxysmal kinesigenic dyskinesiamovement disorders

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