The variants of TBX4 in pediatric PAH include likely gene-disrupting (LGD) variants (including premature stop-gain, frameshift indels, canonical splicing variants, and deletion of exons), damaging missense variants, heterozygous loss-of-function TBX4 mutations and in-frame deletion, and LGD variants (52.6%–100%) and damaging missense variants (0%–25%) as predominant mutations(Kerstjens-Frederikse et al., 2013; Levy et al., 2016; Vanlerberghe et al., 2017; Zhu et al., 2018a). The gene discussed is TBX4; the disease is pulmonary arterial hypertension.