TY - JOUR
T1 - A novel partial deletion of exons 2-10 of the STS gene in recessive X- linked ichthyosis
AU - Valdes-Flores, Margarita
AU - Kofman-Alfaro, Susana H.
AU - Jimenez Vaca, Ana L.
AU - Cuevas-Covarrubias, Sergio A.
N1 - Funding Information:
This study was supported by CONACYT, México, project number 26362-M.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Dehydroepiandrosterone sulfate
KW - Leukocytes
KW - STS gene
KW - Steroid sulfatase
KW - X- linked ichthyosis
UR - http://www.scopus.com/inward/record.url?scp=0034146404&partnerID=8YFLogxK
U2 - 10.1046/j.1523-1747.2000.00924.x
DO - 10.1046/j.1523-1747.2000.00924.x
M3 - Artículo
SN - 0022-202X
VL - 114
SP - 591
EP - 593
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 3
ER -