M. Valdes-flores et al., A novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis, J INVES DER, 114(3), 2000, pp. 591-593
X-linked ichthyosis is an inherited disease due to steroid sulfatase defici
ency. Onset is at birth or early after birth with dark, regular, and adhere
nt scales of skin. Approximately 85%-90% of X-linked ichthyosis patients ha
ve large deletions of the STS gene and flanking sequences. Three patients h
ave 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 ich
thyosis patient. The subject was classified through steroid sulfatase assay
in leukocytes using 7-[H-3]-dehydroepiandrosterone sulfate as a substrate.
Exons 1, 2, 5, and 7-10, and 3' flanking sequences DXS1131, DXS1133, DXS23
7, DXS1132, DXF22S1, and DXS278 of the STS gene were analyzed through polym
erase chain reaction. The DNA analysis showed that exon 1 and 3' flanking s
equences from DXS237 to DXS278 were present. In this study we report the fo
urth partial deletion of the STS gene and the first spanning exons 2-10 in
X-linked ichthyosis patients.