Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were selected. Peripheral blood was drawn after obtaining informed consent, and genomic DNA was extracted by a standard protocol. Sanger sequencing was performed for the screening of PRRT2 mutations. A total of five cases were detected to harbor PRRT2 mutations. Four familial cases carried a c.649dupC (p.Arg217Profs*8) mutation, while one sporadic case and his asymptomatic father carried a c.133-136delCCAG (p.Pro45Argfs*44) mutation. PRRT2 mutations were not identified in the remaining cases. The study further confirmed that PRRT2 was a causative gene of PKD and implied that PRRT2 mutation has incomplete penetrance.
Highlights
Paroxysmal kinesigenic dyskinesia (PKD), known as paroxysmal exercise‐induced dyskinesia syndrome, is an autosomal dominant genetic disease, the incidence rate of which is ~1/150,000 [1]
PKD is the most common form of paroxysmal dyskinesia with onset triggered by sudden movements
It has been confirmed that PRRT2 is a causative gene of PKD
Summary
Paroxysmal kinesigenic dyskinesia (PKD), known as paroxysmal exercise‐induced dyskinesia syndrome, is an autosomal dominant genetic disease, the incidence rate of which is ~1/150,000 [1]. Patients with PKD are very sensitive to antiepileptic drugs; small doses of carbamazepine or phenytoin can. Since it was first reported in 1967 [5], it has been confirmed that there are two pathogenic gene regions in PKD, 16p11.2‐q12.1 and 16q13‐q22.1 [6,7]. In 2011, Chen et al collected eight families with PKD and discovered using whole exon sequencing combined with Sanger sequencing that all eight families were carrying PRRT2 gene mutations, while no PRRT2 mutations were found in the 1,000 cases of the normal control group [9]. Nine cases of clinically diagnosed PKD were collected from 2007 onwards, and the genes of these patients were sequenced by the Sanger method. The incidence of PRRT2 mutations in the patients was determined to investigate PRRT2 as a pathogenic gene in PKD
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