Mini-review on "Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase".

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM #309900) is an X-linked congenital disorder characterized by an accumulation of glycosaminoglycans in the body.Accumulating evidence has suggested that the prevalence of the severe type of MPS II is almost 70%.In addition, novel mutations that are relevant to MPS II pathogenesis are being increasingly discovered, so the databases of genetic data regarding pathogenic mutations have been growing.We have recently reported a collection of 16 novel pathogenic mutations of the iduronate-2-sulfatase (IDS) gene in 65 families with MPS II in a Japanese population 1 .We also proposed that a homologybased prediction model, a computer-assisted method, is effective in estimating whether or not a mutation of interest may be associated with the severe type of MPS II.Overall, our results regarding genetic mutations of the IDS gene will provide a key to selection of the most appropriate therapeutic strategy, and will help to maximize the pharmacological outcome of currently available agents.