Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion

Tremor and Other Hyperkinetic Movements

article

Pichet Termsarasab¹  Amy C. Yang²  Jennifer Reiner²  Hui Mei²  Stuart A. Scott²  Steven J. Frucht¹ 

[1] Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

关键词: Paroxysmal kinesigenic dyskinesia;    16p11.2 microdeletion;    movement disorders;   

DOI  :  10.5334/tohm.212

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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.

【 授权许可】

CC BY