Figure 1.

Pedigree structure and haplotypes at 1p31-p36.1 locus for family with autosomal dominant electrical and myopathic heart disease. Phenotypic traits are indicated by shaded quadrants within the pedigree symbol. A triangle (▸) designates the proband whereas an asterisk (*) indicates individuals who underwent WES. Short tandem repeat DNA markers are listed from p telomere to centromere, with map locations according to the National Center for Biotechnology Information Web site (hg19 human reference genome) and given in megabases (MB) and centimorgans (cM). Haplotypes for marker genotypes are shown in columns below pedigree symbols with identical disease-associated haplotypes (boxed) inherited by all seven affected family members. A recombination event in III.1 defines D1S2864 as the upper-flanking marker whereas the lower-flanking marker, D1S2841, is defined by recombination events in III.3 and III.4. TNNI3K maps within this 57 MB locus. Presence of the identified TNNI3K-G526D mutant allele is indicated by a plus symbol (+) and its absence by a minus (−) symbol. CHF, congestive heart failure; CSD, conduction system disease; d., age at death; DCM, dilated cardiomyopathy; LVE, left ventricular enlargement; SD, sudden unexpected death.