Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

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

doi:10.7916/D8N58K0Q

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 journal › Article › peer-review

16 Scopus citations

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 language	English (US)
Journal	Tremor and Other Hyperkinetic Movements
Volume	2014
Issue number	1
DOIs	https://doi.org/10.7916/D8N58K0Q
State	Published - Nov 17 2014
Externally published	Yes

Keywords

16p11.2 microdeletion
movement disorders
Paroxysmal kinesigenic dyskinesia

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.7916/D8N58K0Q

Cite this

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title = "Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion",

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{\textquoteright}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.",

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AU - Termsarasab, Pichet

AU - Yang, Amy

AU - Reiner, Jennifer

AU - Mei, Hui

AU - Scott, Stuart A.

AU - Frucht, Steven J.

PY - 2014/11/17

Y1 - 2014/11/17

N2 - 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.

AB - 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.

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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

Abstract

Keywords

ASJC Scopus subject areas

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