Five GALNS variants (c.121-2_121-1insTTTGCTGGCATATGCA, E2 deletion, c.569 A > G, c.898 + 2 T > A, and c.1139 + 2 T > C) were described for the first time in patients with MPS IVA. Here, GALNS is linked to mucopolysaccharidosis type 4A.