title: X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.
abstract: We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus.
authors.affiliation: Istituto di Genetica Molecolare del CNR, Trieste, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Robledo
authors.forename: P
authors.initials: P
authors.lastname: Melis
authors.forename: E
authors.initials: E
authors.lastname: Schillinger
authors.forename: I
authors.initials: I
authors.lastname: Casciano
authors.forename: I
authors.initials: I
authors.lastname: Balazs
authors.forename: A
authors.initials: A
authors.lastname: Rinaldi
authors.forename: M
authors.initials: M
authors.lastname: Siniscalco
authors.forename: G
authors.initials: G
authors.lastname: Filippi
mesh_terms: D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D043266:Steryl-Sulfatase; D014960:X Chromosome / Q000235:genetics
chemical_list: D005819:Genetic Markers; D001192:Arylsulfatases; D043266:Steryl-Sulfatase