X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene

✍ Scribed by Cuevas-Covarrubias, S. A.; Kofman-Alfaro, S. H.; Maya-Núñez, G.; Díaz-Zagoya, Juan C.; Orozco, E. Orozco

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 5 KB
• Volume: 72
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19971112)72:4<415::aid-ajmg8>3.0.co;2-p

✦ Synopsis

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-dehydroepiandrosterone sulfate as the substrate. No amplification of the 3 and 5 ends of the STS gene by PCR was detected in the DNA of 49 patients, whereas only one sample of 50 presented a normal amplification. This report shows a very high frequency of deletions in the human STS encoding gene in a representative sample of the Mexican population, and it defines the characteristics of XLI in patients whose STS gene has a complete deletion as a major molecular defect.