Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient

oleh: S Prabhakara, Kolandaswamy Anbazhagan

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2014-01-01

Deskripsi

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.R217PfsFNx018) 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.