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Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome

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Summary

Using an assay for sulfoiduronate sulfatase based on the degradation of35S mucopolysaccharides in a cellfree system, two clonal populations have been demonstrated in fibroblasts of heterozygotes for Hunter's syndrome. The locus responsible for sulfoiduronate sulfatase deficiency in thisX-linked mucopolysaccharidosis is therefore subjected to dosage compensation in females.

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Authors and Affiliations

  1. International Institute of Genetics and Biophysics, CNR, Via Marconi, 10, I-80125, Napoli, Italy

    Maria R. Capobianchi & G. Romeo

Authors
  1. Maria R. Capobianchi
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  2. G. Romeo
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Additional information

Acknowledgments. The technical assistance of Mr.Antonio De Falco and Mrs.Carmela Salzano is gratefully acknowledged. The authors are indebted to Dr.H. Kresse (Münster, BRD) for helpful suggestions.

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Capobianchi, M.R., Romeo, G. Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome. Experientia 32, 459–460 (1976). https://doi.org/10.1007/BF01920795

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  • DOI: https://doi.org/10.1007/BF01920795

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