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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features

Yu-Lan Chen1, Dian-Fu Chen1, Hua-Zhen Ke1

  • 1Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.

Neurology. Genetics
|February 21, 2022
PubMed
Abstract

Insights

A significant portion of paroxysmal kinesigenic dyskinesia (PKD) cases are linked to 16p11.2 microdeletions (16p11.2MD), often presenting with mild developmental issues. Genetic testing for 16p11.2MD is crucial for accurate diagnosis in PKD patients.

Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • Isolated paroxysmal kinesigenic dyskinesia (PKD) is primarily associated with PRRT2 and TMEM151A variants.
  • 16p11.2 microdeletion (16p11.2MD) typically presents with neurodevelopmental phenotypes, but can also manifest as PKD.
  • The overlap between 16p11.2MD and PKD necessitates further investigation.

Purpose of the Study:

  • To identify 16p11.2MD in patients diagnosed with PKD.
  • To characterize the clinical and genetic features of patients with both PKD and 16p11.2MD.

Main Methods:

  • Whole-exome sequencing and copy number variant (CNV) analysis were employed for patients lacking PRRT2 or TMEM151A variants.
  • Quantitative PCR and low-coverage whole-genome sequencing were used to confirm identified CNVs.

Main Results:

  • 16p11.2MD was identified in 9.6% (9/94) of sporadic PKD patients.
  • Combined with previously reported cases, 16p11.2MD was found to be de novo in most patients (11/12).
  • Common phenotypes included mild language delay (80%), impaired learning ability (64.3%), mild motor delay (42.9%), and abnormal neuroimaging (50%).

Conclusions:

  • Mild developmental problems in patients with 16p11.2MD may be subtle and easily overlooked.
  • Comprehensive developmental history assessment and CNV testing are essential for differentiating 16p11.2MD from isolated PKD.

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