title: A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis.
abstract: We analyzed the steroid sulfatase (STS) gene in nine Japanese patients with X-linked ichthyosis (XLI) by a polymerase chain reaction technique and subsequent DNA sequencing. Eight of nine patients showed complete deletion of the STS gene. In a patient of XLI exhibiting a normal amplifying pattern with predicted sizes of the STS gene, a novel mutation was found resulting in the appearance of a stop codon in exon 7 of the STS gene. This suggests that exon 7 or an area in its downstream region is important for STS activity.
authors.affiliation: Department of Dermatology, Hiroshima University School of Medicine, Minami-ku, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Morita
authors.forename: O
authors.initials: O
authors.lastname: Katoh
authors.forename: S
authors.initials: S
authors.lastname: Shinoda
authors.forename: T
authors.initials: T
authors.lastname: Hiragun
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Kameyoshi
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
mesh_terms: D001192:Arylsulfatases / Q000235:genetics*; D004796:Clinical Enzyme Tests; D005091:Exons; D005784:Gene Amplification; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D007564:Japan / Q000208:ethnology; D017354:Point Mutation; D043266:Steryl-Sulfatase
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase