Abstract
Both Hurler(1H) and Scheie(1S) diseases (McKusick 25280) are caused by a deficiency of α-l-iduronidase (EC 3.2.1.76). To explain their widely different phenotypes McKusick et al. (1972) suggested that the abnormal genes H and S are allelic. A compound form was postulated (H/S) and at least 33 such cases have been reported (Roubicek et al., 1985). Amongst such H/S compound cases the frequency of parental consanguinity should be no higher than in the general population. However, five instances of parental consanguinity amongst H/S cases have been reported suggesting a third allelic mutant. We describe a further case with H/S phenotype whose parents were related.
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© 1989 SSIEM and Kluwer Academic Publishers
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Davies, D.L., Dutton, G.N., Farquharson, J., Logan, R.W., Tolmie, J.L. (1989). Hurler-Scheie Phenotype Associated with Consanguinity. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_53
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DOI: https://doi.org/10.1007/978-94-009-1069-0_53
Publisher Name: Springer, Dordrecht
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