Supplementary Material for: Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in <i>KCNJ2</i>
Modoni A.
Bianchi M.L.E.
Vitulano N.
Pagliarani S.
Perna F.
Sanna T.
Rizzo V.
Silvestri G.
10.6084/m9.figshare.5123173.v1
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Lack_of_Any_Cardiac_Involvement_in_a_Patient_with_Andersen-Tawil_Syndrome_Associated_with_the_c_574A_G_Mutation_in_i_KCNJ2_i_/5123173
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 <i>KCNJ2,</i> encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although <i>KCNJ2</i> 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 <i>KCNJ2,</i> 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.
2012-01-26 00:00:00
Andersen-Tawil syndrome
KCNJ2
Cardiac involvement