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

ABSTRACT

OBJECTIVE: To screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD). METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family. RESULTS: 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. CONCLUSION: 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.