GALNS and mucopolysaccharidosis type 4A: In this study, we utilized bioinformatic approaches to identify eight PE-activating variants in the GALNS gene, of which four (c.121-210C > T, c.423-862C > T, c.899-167A > G, c.1003-1570G > T) were identified in patients with MPS IVA, while the rest (c.120 + 1336A > G, c.121-149G > A, c.422 + 933G > T, and c.1003-1397A > G) are present in individuals from gnomAD database.