As for the PIK3CA variants in patients with KTS [3, 6–9], Kurek et al. reported H1047R in 3 of 15 patients [3], while Luks et al. reported E542K in 3, E545K in 9, E545G in 1, H1047R in 6, and H1047L in 1 of 21 patients [6]. Here, PIK3CA is linked to angioosteohypertrophic syndrome.