title: Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.
abstract: 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.
authors.affiliation: Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Modoni
authors.forename: Maria Laura Ester
authors.initials: ML
authors.lastname: Bianchi
authors.forename: Nicola
authors.initials: N
authors.lastname: Vitulano
authors.forename: Serena
authors.initials: S
authors.lastname: Pagliarani
authors.forename: Francesco
authors.initials: F
authors.lastname: Perna
authors.forename: Tommaso
authors.initials: T
authors.lastname: Sanna
authors.forename: Valentina
authors.initials: V
authors.lastname: Rizzo
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
mesh_terms: D000328:Adult; D050030:Andersen Syndrome / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000235:genetics; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D019683:Penetrance; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*
chemical_list: C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying