Abstract
While screening families with hemizygotes for Fabry's disease, it became apparent that there were three useful criteria to detect female heterozygotes: corneal opacities, glycolipid levels in urine or serum, α-galactosidase activity in plasma or cultured skin fibroblasts. A few obligatory heterozygotes cannot be distinguished from normal subjects by any of these criteria. We have developed 2 techniques to improve screening of apparently normal females in families at risk. In agreement with Romeo and Migeon (Science:170, 180, 1970) it is possible to recognize two phenotypes by cloning cultured fibroblasts. Among 21 clones obtained from an obligatory heterozygote, only 4 had normal α-galactosidase activity. A faster technique is to use electron microscopy to search for characteristic lysosomal inclusions. We were able to demonstrate a significant proportion of abnormal cells in cultured fibroblasts as well as in the original skin biopsy. These findings confirm the anomalous inactivation of the X-chromosomes suggested by variability in the clinical phsnotypes. This must be taken into account when counseling possible carriers. (Supported in part by PHS Grant HD-04612).
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Philippart, M., Kamensky, E., Cancilla, P. et al. HETEROZYGOTE DETECTION IN FABRY'S DISEASE. Pediatr Res 8, 393 (1974). https://doi.org/10.1203/00006450-197404000-00319
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DOI: https://doi.org/10.1203/00006450-197404000-00319