Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion
<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, featur...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2014-11-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/274 |
| _version_ | 1828882730849402880 |
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| author | Pichet Termsarasab Amy C. Yang Jennifer Reiner Hui Mei Stuart A. Scott Steven J. Frucht |
| author_facet | Pichet Termsarasab Amy C. Yang Jennifer Reiner Hui Mei Stuart A. Scott Steven J. Frucht |
| author_sort | Pichet Termsarasab |
| collection | DOAJ |
| description | <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’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> |
| first_indexed | 2024-12-13T10:33:47Z |
| format | Article |
| id | doaj.art-732bd6a288da46009380c07f08d641e4 |
| institution | Directory Open Access Journal |
| issn | 2160-8288 |
| language | English |
| last_indexed | 2024-12-13T10:33:47Z |
| publishDate | 2014-11-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Tremor and Other Hyperkinetic Movements |
| spelling | doaj.art-732bd6a288da46009380c07f08d641e42022-12-21T23:50:47ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882014-11-01410.7916/D8N58K0Q193Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 MicrodeletionPichet Termsarasab0Amy C. Yang1Jennifer Reiner2Hui Mei3Stuart A. Scott4Steven J. Frucht5Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USAMovement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA<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’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>https://tremorjournal.org/index.php/tremor/article/view/274 |
| spellingShingle | Pichet Termsarasab Amy C. Yang Jennifer Reiner Hui Mei Stuart A. Scott Steven J. Frucht Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion Tremor and Other Hyperkinetic Movements |
| title | Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion |
| title_full | Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion |
| title_fullStr | Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion |
| title_full_unstemmed | Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion |
| title_short | Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion |
| title_sort | paroxysmal kinesigenic dyskinesia caused by 16p11 2 microdeletion |
| url | https://tremorjournal.org/index.php/tremor/article/view/274 |
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