Novel point mutations in the steroid sulfatase gene in patients with X- linked ichthyosis: Transfection analysis using the mutated genes

Noritaka Oyama, Masataka Satoh, Keiji Iwatsuki, Fumio Kaneko

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

Abstract

X-linked ichthyosis is caused by steroid sulfatase deficiency which results from abnormalities in its coding gene. The majority of X-linked ichthyosis patients (≃90%) have complete or partial deletions of the steroid sulfatase gene. In this study, we examined the mutations of the steroid sulfatase gene in two unrelated X-linked ichthyosis patients without complete deletion of the gene. Polymerase chain reaction-single-strand conformation polymorphism and direct sequencing analyses showed that each patient has a different single base pair substitution within exon 8 encoding the C-terminal half of the steroid sulfatase polypeptide. Both mutations resulted in the transversion of functional amino acids: a G→C substitution at nucleotide 1344, causing a predicted change of a glycine to an arginine, and a C→T substitution at nucleotide 1371, causing a change from a glutamine to a stop codon. In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients.

Original languageEnglish
Pages (from-to)1195-1199
Number of pages5
JournalJournal of Investigative Dermatology
Volume114
Issue number6
DOIs
Publication statusPublished - 2000

Keywords

  • Genotype-phenotype correlation
  • In vitro expression
  • Polymerase chain reaction-single-strand conformation polymorphism
  • Site-directed mutagenesis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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