Genetic testing performed in the proband’s affected mother also failed to reveal any causal variants in a larger collection of genes associated with connective tissue disorders: ACTA2, COL3A1, MYH11, SLC2A10, SMAD3, or MYLK. Therefore, WGS was performed for the proband and his affected cousin and identified a p.Met298Arg missense variant in the elastin and collagen cross-linking enzyme, Lysyl oxidase, encoded by the LOX gene.29 This variant would place a repulsive positive charge from Arg in the Cu2+ binding active site of the enzyme. Here, LOX is linked to connective tissue disorder.