Fig. 2: p.Asp76Asn probands are distantly related.
Analysis of genome-wide IBD sharing in the clinic p.Asp76Asn carriers was used to reconstruct all known pedigrees of first-degree relatives as well as to identify previously unknown relatedness among these pedigrees and three of the probands without close relatives. It is possible that more distant relatedness exists between the families that is beyond the limit of detection of existing tools (~9th degree) that utilize only pair-wise genetic data to estimate relatedness43. The colored lines indicate shared IBD segments (≥3 cM) spanning KCNE1, both those harboring p.Asp76Asn (blue) and not (red). The long QT phenotype was defined simply as having QTc >480 msec in the absence of QT-prolonging drugs or electrolyte derangements or a documented history of Torsades de Pointes. IBD Identical by descent.
