Gene Mapping And Mutation Analysis Of The PRKAG2 In Chinese Family With Wolff-parkinson-white Syndrome

Wolff-Parkinson-White syndrome (WPW) is the second most common cause of supraventricular arrhythmias in the Western world, and is responsible for more than 70 percent of cases involving paroxysmal supraventricular tachycardia in China. However, a rare, familial appearance of WPW syndrome displays an autosomal dominant inheritance. we study a Chinese kindred with a unique phenotype characterized by:two individuals in the same kindred experienced life-threatening events due to AF conducted rapidly over accessory pathways, and one individual died suddenly in the second decade of life.The subject underwent electrophysiological examination; and gene linkage analysis was performed. Then PRKAG2 exons were amplified by polymerase chain reaction and were screened for mutations by direct sequencing. In addition, polymerase chain reaction and DNA sequencing were used to screened for KCNQ1 mutations.We found the gene of the familial WPW syndrome located at 7q3;A missense mutation, the substitution of adenine for guanine, was identified at nucleotide 995 of the PRKAG2 cDNA sequence in five living, affected individuals (â… -1,â…¡-2,â…¡-4,â…¢-1,â…¢-3). The unaffected individuals and individuals with sporadic WPW syndrome were not identified with the mutation. In addition, KCNQ1 mutation were not found in all subjects.In conclusion, These findings extend the spectrum of genotype-phenotype relationships associated with PRKAG2 cardiac syndrome and provide the novel insight that R302Q in the PRKAG2 may be involved in malign clinical manifestations. The variant suggestive of genetic heterogeneity, moreover, environment, ethnic specific and gender may be important influence factors. In addition, KCNQ1 mutation may not play a role in the pathogenesis of AF associated with familial WPW syndrome.