Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp
✍ Scribed by C. R. Müller; J. Wahlström; H. -H. Ropers; Doreen Liebeskind
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 112 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0340-6717
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The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). To establish the correct diagnosis, STS activity was determined in leukocytes using 7-3 H-dehydroep
## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another
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 recombinatio