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Background  Mutations in proline-rich transmembrane protein 2 ( PRRT2 ) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the  PRRT2  gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with  PRRT2  gene.    Methods  Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencing. For the pathogenesis with the novel mutation was analyzed by bioinformatics, real-time PCR, subcellular localization and Western blot.    Results  The Sanger sequencing showed a novel mutation, c.186-187delGC, a deletion mutation, in exon 2 of the  PRRT2  gene, the frameshift mutation generated a truncated protein that was stably expressed in transfected Human embryonic kidney (HEK) 293 cells. A subcellular localization assay in COS-7 cells with GFP-tagged protein showed nuclear localization for the mutant protein while the wild-type protein was localized in membranes. Co-transfection of HEK293 cells with wild-type and mutant expression plasmids cells did not influence mRNA or protein expression from the wild-type plasmid.    Conclusions  Our findings demonstrated that the c.186-187delGC mutation resulted in a truncated protein from the  PRRT2  gene to involve in PKD pathogenesis with haploinsufficiency. The results extend the mutation spectrum of the  PRRT2  gene and provide a new example for studying the pathogenesis of the mutated  PRRT2  gene.

Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family