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PCR diagnosis of X-linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene

✍ Scribed by Teruo Sugawara; Hiroshi Shimizu; Nobuhiko Hoshi; Yuko Fujimoto; Ayako Nakajima; Seiichiro Fujimoto

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
306 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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