Adult and infantile Gaucher disease in one family: mutational studies and clinical update.

Abstract

Molecular analysis and clinical updates are provided on a previously reported mother and adult son with Gaucher disease; two other children died with acute neuronopathic (type 2) Gaucher disease. The mother and son have the identical genotype (370/444) but very different clinical manifestations. These findings illustrate the need for additional studies before families with newly diagnosed Gaucher disease undergo counseling.