Modoni Anna, Bianchi Maria Laura Ester, Vitulano Nicola, Pagliarani Serena, Perna Francesco, Sanna Tommaso, Rizzo Valentina, Silvestri Gabriella
Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy.
Cardiology. 2011;120(4):200-3. doi: 10.1159/000335529. Epub 2012 Jan 26.
The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in KCNJ2, encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although KCNJ2 mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in most ATS1 cases. In contrast, here we describe an Italian ATS1 patient, carrying a c.574A→G mutation in KCNJ2, who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.
安徒生-陶威尔综合征（ATS）的特征为低钾血症性或正常血钾性肌肉周期性麻痹、畸形特征和室性心律失常。大多数病例由KCNJ2基因突变引起，该基因编码内向整流钾通道Kir2.1（ATS1）。尽管KCNJ2基因突变未显示出明显的基因型-表型相关性且存在不完全外显率，但大多数ATS1病例通常都有心脏受累的迹象。相比之下，我们在此描述一名意大利ATS1患者，其KCNJ2基因存在c.574A→G突变，该患者既有面部畸形又有肌肉周期性麻痹，但未表现出任何心脏受累情况，尽管相同的突变最初在一个日本家族中被描述，该家族中所有受影响个体均表现出严重的心脏表型。
