Prenatal molecular diagnosis of gaucher disease |
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| Authors: | A Zimran MD D Elstein A Abrahamgv W Kuhl K H Brown E Beutler |
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| Institution: | 1. Gaucher Clinic, Shaare-Zedek Medical Center, Jerusalem, Israel;2. Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California, U.S.A.;3. Department of Medical Genetics, Scripps Research Institute, La Jolla, California, U.S.A. |
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| Abstract: | Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available. |
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| Keywords: | Gaucher disease glucocerebrosidase genotype/phenotype prenatal diagnosis genetic counselling |
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