Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient |
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Authors: | S Prabhakara Kolandaswamy Anbazhagan |
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Institution: | 1.Department of Research and Development, Genomics and Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar, India;2.Central Research Lab, Raja Rajeswari Medical College and Hospital, Bangalore, Karnataka, India;3.INSERM U844, Institute for Neurosciences of Montpellier, Hospital St. Eloi, 34295 Montpellier, France |
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Abstract: | Paroxysmal kinesigenic dyskinesia (PKD) is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. Mutations in proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in the cause of this disorder. This study presents a case of PKD on the basis of clinical findings supported and evidences obtained through a mutational analysis. Sequencing of all the exons of PRRT2 gene revealed a frameshift mutation (p.R217Pfs*8) in exon 2 and a novel transition mutation (c.244C > T) in 5′-untranslated region (UTR). Though mutations in PRRT2 gene are well-established in PKD, this study for the first time presents a novel transition mutation in the exon 2 region. |
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Keywords: | Mutation analysis paroxysmal kinesigenic dyskinesia proline-rich transmembrane protein |
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