Six New Gaucher Disease Mutations

Six previously undescribed mutations were identified in 6 unrelated Gaucher disease patients: 437C-->T (107Ser-->Leu), 593C-->T (159Pro-->Leu), 604C-->T (163Arg-->Stop), 1138G-->A (341Ala-->Thr), 1214G-->A (366Ser-->Asn), 1294T-->A (393Trp-->Arg). Five patients were compound heterozygotes and 1 patient was a 593T/593T homozygote. Four patients had type I Gaucher disease with mild clinical phenotypes. Two other patients manifested central nervous system involvement (type II and type III).