Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families

摘要

Romano-Ward syndrome (RWS) is an autosomal dominant disorder characterized by prolongation of the electrocardiographic QT interval, with clinical manifestations that include recurrent syncope and sudden death from ventricular arrhythmias. Presymptomatic diagnosis is difficult because of the variability in these signs among carriers, but it is important for clinical management to prevent sudden cardiac death. To find an LQT (long QT) locus in Japanese patients and to identify DNA markers useful for presymptomatic diagnosis, linkage analyses were undertaken in 13 Japanese families with RWS patients by means of two DNA markers located on 11p15.5. One of these marker loci, HRAS, was previously reported to be tightly linked to the LQT locus in another ethnic group. Our analyses of homogeneity suggest evidence for genetic heterogeneity of RWS within the Japanese population.