LAUSR

arylsulphatase C activity assay of the family are summarized in Table 2. There were no other patients with ichthyosis in the family. A missense G62R mutation in the STS gene has not been reported previously, and is not listed in the Human Genome Mutation Database (Professional edition; http:// www.hgmd.cf.ac.uk/ac/index.php). This mutation is predicted to be pathological by PROVEAN and PolyPhen2, and is graded as ‘supporting’ according to the criteria of the American College of Medical Genetics and Genomics standards and guidelines. The identification of the present base change expands the spectrum of known mutations of STS in X-linked ichthyosis. Whether the complex complications in the present siblings are associated with this specific G62R mutation remains elusive. Creation of a mouse model carrying the G62R mutation of humanized STS might be helpful for examining the possible effects of this particular mutation on bones, brain and testes.