Author Affiliation: Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California.
It was a warm summer day more than 30 years ago when my laboratory assistant and collaborator, Wanda Kuhl, showed me some unusual results. Our laboratory had devised a facile method for measuring white blood cell glucocerebrosidase activity and was performing family studies to determine the efficiency of this technique for the detection of heterozygotes for Gaucher disease. But here was a sample from an obligate heterozygote, the mother of a patient with Gaucher disease, in which the range of enzyme activity was as low as in the patient. Bone marrow examination in this 72-year-old asymptomatic parent confirmed that she also had Gaucher disease.1 Discovery of Gaucher disease in an older, asymptomatic individual was by no means unique—the disease had previously been detected in such persons, including one person who was aged 86 years.2 However, many persons homozygous for the N370S mutation associated with Gaucher disease are never diagnosed; based on the discrepancy between the heterozygote frequency and the number of patients diagnosed, an estimated 60% of such homozygous patients may go undiagnosed.3
Beutler E. Carrier Screening for Gaucher Disease: More Harm Than Good? JAMA. 2007;298(11):1329–1331. doi:https://doi.org/10.1001/jama.298.11.1329
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