Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia / 中华医学遗传学杂志

ABSTRACT

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