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Content » Vol 79, Issue 2

Clinical Report

Most "Sporadic" Cases of X-linked Ichthyosis are not De Novo Mutations

S. A. Cuevas-Covarrubias, M. Valdes-Flores, E. Orozco Orozco, J. C. Díaz-Zagoya, S. H. Kofman-Alfaro
DOI: 10.1080/000155599750011381

Abstract

X-linked ichthyosis is an inherited disease with dark, regular and adherent scales as clinical characteristics. It is caused by a deficiency of the steroid sulphatase enzyme. Steroid sulphatase assay is a relative easy tool that enables correct diagnosis of X-linked ichthyosis patients and carriers. A large number of X-linked ichthyosis patients correspond to non-familial cases that seem to represent de novo mutations. In this study, we examined the X-linked ichthyosis carrier state of the mothers of 42 non-familial cases to determine whether their children corresponded to de novo mutations. To classify patients and carriers, a steroid sulphatase assay was performed in leukocytes using 7-[3H]-dehydroepiandrosterone sulphate as substrate. In 36 mothers (85%) we found steroid sulphatase activity compatible with the carrier state of X-linked ichthyosis. This data suggest that most of the mothers of these patients present the primary gene defect, excluding de novo mutations in the patients.

Significance

Supplementary content

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