Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 55 9 2017 10 30 585 590 EN Samaneh Abbasi Department of Stem Cell Research, Sarem Women’s Hospital, Tehran, Iran. Mehrdad Noruzinia Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Oranous Bashti Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Mohammad Ahmadvand Department of Hematology, Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Ahmad Reza Salehi Chaleshtori Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Leila Mahootipou Department of Stem Cell Research, Sarem Women’s Hospital, Tehran, Iran. 2016 07 07 2016 10 31 Mucopolysaccharidosis VI (MPS-VI) is an infrequent autosomal recessive disorder caused by mutations in ARSB gene and deficiency in lysosomal enzyyme ARSB activities subsequently. This enzyme is essential for the breaking of glycosaminoglycans (GAGs) such as dermatan sulfate and chondroitin sulfate. ARSB dysfunction results in imperfect breakdown of GAGs and their accumulation in urine. Mutations in ARSB gene are the main players in MPS-VI disease and its clinical consequences. Most reported mutations are point mutations but there are some other examples in literature. Here we report a novel missense mutation in ARSB gene that is inherited as an autosomal recessive mode and probably explain the clinical status of the proband. This mutation replaces the threonine 92 by proline and alters ARSB structure. This is the most feasible scenario for clinical condition we described here. This novel mutation should be remarked for PND and PGD to improve the health and management of such families. https://acta.tums.ac.ir/index.php/acta/article/view/5759 https://acta.tums.ac.ir/index.php/acta/article/download/5759/4991