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PCR diagnosis of X‐linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene
Author(s) -
Sugawara Teruo,
Shimizu Hiroshi,
Hoshi Nobuhiko,
Fujimoto Yuko,
Nakajima Ayako,
Fujimoto Seiichiro
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200003)15:3<296::aid-humu17>3.0.co;2-#
Subject(s) - steroid sulfatase , biology , ichthyosis , genetics , gene , mutation , identification (biology) , steroid , endocrinology , botany , hormone
X‐linked ichthyosis (XLI) is an inherited skin disorder due to deficiency of steroid sulfatase (STS) activity. XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth. Most patients have a large deletion of the STS gene, generated by inaccurate recombination at the STS locus. However, point mutations in the STS gene have been reported in some patients with complete STS deficiency. In a new case of STS deficiency, we identified an STS missense mutation, Glu560Pro or E560P. This new point mutation suggests that the C‐terminal region of the STS enzyme is important for STS enzymatic function. Hum Mutat 15:296, 2000. © 2000 Wiley‐Liss, Inc.