Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

@article{Basler1992IdentificationOP,
  title={Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.},
  author={E A Basler and Markus Grompe and Giancarlo Parenti and Julie Yates and Andrea Ballabio},
  journal={American journal of human genetics},
  year={1992},
  volume={50 3},
  pages={483-91}
}
X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid sulfatase (STS) deficiency. In more than 80% of XLI patients the enzyme deficiency is due to large deletions involving the entire STS gene and flanking sequences. However, some patients with the classical XLI phenotype and complete STS deficiency do not show any detectable deletions by Southern blot analysis using full-length STS cDNA as a probe. We have studied five unrelated patients who are such "nondeletion… CONTINUE READING