Among the genes queried, COL3A1 and aggregated testing of Loeys-Dietz syndrome-associated genes (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3) were the leading signals of enrichment, consistent with prior studies [21•, 24, 25]. The gene discussed is SMAD2; the disease is Loeys-Dietz syndrome.