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

Cuevas-Covarrubias, S. A.; Valdes-Flores, M.; Orozco Orozco, E.; Díaz-Zagoya, J. C.; Kofman-Alfaro, S. H.
May 1999
Acta Dermato-Venereologica;5/26/99, Vol. 79 Issue 2, p143
Academic Journal
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-[[sup 3]H]-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.


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