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目的位于7号染色体上的腺苷-磷酸激活的蛋白激酶γ~2调节亚单位基因(PRKAG2基因)调节代谢通路。报道一个具有 PRKAG2基因突变而临床表现型不同的家系。方法使用 DNA直接测序法,对一个具有多种形式心律失常的患者家系(13例患者)进行 PRKAG2外显子及外显子和内含子拼接部位序列筛查寻找基因突变。结果心电图显示患者家系存在窦性心动过缓、短 PR 间期、完全性右束支传导阻滞、房室传导阻滞和房性心动过速。其中3例患者在年轻时发生猝死,没有1例有预激综合征(预激)表现,只有1例有心肌肥厚。DNA 测序结果显示,该家系所有患者皆有一个 PRKAG2错义突变(R302Q)。这个基因突变以前曾描述并与预激和左室肥厚有关。结论PRKAG2基因突变不仅导致预激而且与多种临床表现型有关。完全性右束支传导阻滞、窦性心动过缓、短 PR 间期应该高度怀疑有 PRKAG2基因突变的可能。
The purpose is to regulate the metabolic pathway by the adenosine - phospho - activated protein kinase γ ~ 2 regulatory subunit gene (PRKAG2) located on chromosome 7. A family with different PRKAG2 mutations and different clinical phenotypes was reported. Methods DNA sequencing was used to screen for the mutation of PRKAG2 exon, exon and intron stitching site in a pedigree (13 patients) with multiple forms of arrhythmia. Results The electrocardiogram showed sinus bradycardia, short PR interval, complete right bundle branch block, atrioventricular block and atrial tachycardia in the pedigrees. Three of these patients had sudden death at a young age, none of them had pre-excitation syndrome (pre-excitation), and only one had cardiac hypertrophy. DNA sequencing showed that all patients in this pedigree had a PRKAG2 missense mutation (R302Q). This gene mutation was previously described and associated with prolactin and left ventricular hypertrophy. Conclusion The PRKAG2 gene mutation not only leads to pre-excitation but also to a variety of clinical phenotypes. Complete right bundle branch block, sinus bradycardia, short PR interval should be highly suspected PRKAG2 gene mutation possible.