Ullah (2017) performed the first molecular diagnosis of 8 Pakistani families affected by MPS and identified 4 novel variants p.Phe216Ser, p.Met38Arg, p.Ala291Ser, p.Glu121Argfs*37 and 2 recurrent variants p.Pro420Arg, p.Arg386Cys in GALNS [16]. Here, GALNS is linked to mucopolysaccharidosis.