Absence of PRKAG2 Mutation in Isolated Familial Wolff-Parkinson-White Syndrome-A Case Report

家族性沃爾夫－巴金斯－懷特症候群是一個顯性遺傳的疾病，之前的基因研究發現，和第七對染色體上的PRKAG2基因突變有關。PRKAG2基因突變常常合併肥厚性心肌病變或是房室結節疾病，但是目前在台灣並沒有關於PRKAG2基因突變和家族性沃爾夫－巴金斯－懷特症候群的報告。因此，我們想要報告這一個有沃爾夫－巴金斯－懷特症候群兩兄弟的PRKAG2基因的情況。在這個家族成員裡，並沒有發現心肌肥厚病變或是房室結節疾病。我們以聚合酶連鎖反應的方式放大其PRKAG2基因再以變性高效能液態層析法偵測其中的異結合予，並以DNA定序的方法決定其DNA變異，結果並沒有發現PRKAG2基因突變，雖然我們發現了和疾病無關的4個intron中單一核苷酸多型性(intron 2,5,9,16)。因此這個家族個案中並沒有發現PRKAG2的基因突變。

關鍵字

PRKAG2基因；家族性沃爾夫－巴金斯－懷特症候群

並列摘要

Familial Wolff-Parkinson-White (WPW) syndrome has an autosomal dominant inheritance. Previous genetic linkage studies showed the locus was on Chromosome 7 (7q3), and the gene was identified to be PRKAG2, which encodes for gamma-2 subunit of AMP-activated protein kinase (AMPK). The PRKAG2 mutation has been related to familial WPW syndrome with concomitant hypertrophic cardiomyopathy and/or atrio-ventricular nodal disease. There was no data about PRKAG2 mutation and familial WPW syndrome in Taiwan. Therefore, we report the status of PRKAG2 mutation in a family containing 2 siblings with documented WPW syndrome. Neither cardiac hypertrophy nor atrio-ventricular nodal disease was found in this family. Polymerase chain reactions were performed to amplify the translated region of the PRKAG2 gene. Denaturing high-performance liquid chromatography was subsequently used to screen for the presence of heterodulplexes, and DNA sequencing was applied to these heterodulplexes. No PRKAG2 mutation was identified in these family members, although four intronic single nucleotide polymorphisms (SNPs) were identified (in introns 2, 5, 9, and 16 respectively). In conclusion, this case report shows the absence of association between PRKAG2 mutation and isolated familial WPW syndrome (without concomitant hypertrophic cardiomyopathy and/or atrio-ventricular nodal disease).

並列關鍵字

PRKAG2 gene ； Familial WPW syndrome

國際替代計量

Absence of PRKAG2 Mutation in Isolated Familial Wolff-Parkinson-White Syndrome-A Case Report

全文下載

主題瀏覽