Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia

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To screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD). Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family. A heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family. The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.