Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Hum Mutat. 2000 Mar;15(3):296.

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

Author information

  • 1Department of Biochemistry. terusuga@med.hokudai.ac.jp

Abstract

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.

Copyright 2000 Wiley-Liss, Inc.

PMID:
10679952
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for John Wiley & Sons, Inc.
    Loading ...
    Write to the Help Desk