title: Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.
abstract: X-linked ichthyosis is an inherited disease due to steroid sulfatase deficiency. Onset is at birth or early after birth with dark, regular, and adherent scales of skin. Approximately 85%-90% of X-linked ichthyosis patients have large deletions of the STS gene and flanking sequences. Three patients have been identified with partial deletions of the gene. Two deletions have been found at the 3' extreme and the other one implicating exons 2-5. This study describes a novel partial deletion of the STS gene in an X-linked ichthyosis patient. The subject was classified through steroid sulfatase assay in leukocytes using 7-[3H]-dehydroepiandrosterone sulfate as a substrate. Exons 1, 2, 5, and 7-10, and 3' flanking sequences DXS1131, DXS1133, DXS237, DXS1132, DXF22S1, and DXS278 of the STS gene were analyzed through polymerase chain reaction. The DNA analysis showed that exon 1 and 3' flanking sequences from DXS237 to DXS278 were present. In this study we report the fourth partial deletion of the STS gene and the first spanning exons 2-10 in X-linked ichthyosis patients.
authors.affiliation: Servicio de Genetica, Instituto Nacional de Ortopedia; Servicio de Genetica, Hospital General de Mexico, Facultad de Medicina, UNAM, Mexico D.F., Mexico.
authors.forename: M
authors.initials: M
authors.lastname: Valdes-Flores
authors.forename: S H
authors.initials: SH
authors.lastname: Kofman-Alfaro
authors.forename: A L
authors.initials: AL
authors.lastname: Vaca
authors.forename: S A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D000293:Adolescent; D001192:Arylsulfatases / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D043266:Steryl-Sulfatase
chemical_list: D017931:DNA Primers; D001192:Arylsulfatases; D043266:Steryl-Sulfatase