Compound heterozygous mutations exon 7 c.1325G > A (p.Thr442Met) and exon 6 c.1197G > C (p.Phe399Leu) in ARSB causing MPS VI have been previously reported, with Chupong et al. presenting data on four MPS VI patients, one of patient exhibited novel compound heterozygous missense ARSB mutations [11]. This evidence concerns the gene ARSB and mucopolysaccharidosis type 6.