Figure 1.

(A) Pedigree of the family demonstrating the affected siblings and, when available, their ALPK3 genotypes. (B) Transthoracic echocardiogram of apical four-chamber view (left) showing symmetrically thickened left ventricular wall and ventricular septum. Parasternal short-axis view (right) showed diffuse concentric left ventricular hypertrophy. RV, right ventricle; LV, left ventricle. (C) Sanger sequencing results. Chromatographs obtained via Sanger sequencing analysis of the index patient and his parents. Sanger sequencing of wild-type control DNA was also performed. Note that the mutation identified via whole-exome sequencing was confirmed as being homozygous versus heterozygous, in the index patient versus his parents, respectively. The bases outlined in red in the wild-type sequence indicate the mutated base pairs. (D) A schematic representation of ALPK3, showing the functional and conserved domains of ALPK3. The red arrowhead indicates the location of the identified variant in this study. Blue arrowheads indicate previously reported variants.