Abstract
A deficiency of steroid sulphatase (STS) is the basic defect of X-linked iohthyosis (XLI) (I). We examined 21 Italian patients with STS deficiency belonging to 14 unrelated families. The patients studied were affected by: 1) XLI classical type (10 families), 2) XLI associated with Kallmann syndrome (2 families), 3) XLI with Becker muscular dystrophy (1 case), and 4) XLI with an X/Y translocation (1 case). We used a human STS cDNA probe, previously isolated by the immunoscreening of a γgt11 cDNA library (2), to investigate the molecular defect involved in our patients. The Southern blotting analysis of patients' DNA, using the STS cDNA sequence as probe, revealed in all cases a deletion of the STS gene, thus suggesting that a gene deletion is the most common molecular defect in STS deficiency, at least in Italy. REFERENCES: (l)Shapiro et al., Lancet 1978, ii, 456 (2) Ballabio et al., F.N.A.S. in press.
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Ballabio, A., Carrozzo, R., Parenti, G. et al. CLINICAL SPECTRUM AND MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY. Pediatr Res 22, 238 (1987). https://doi.org/10.1203/00006450-198708000-00148
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DOI: https://doi.org/10.1203/00006450-198708000-00148