IDENTIFICATION OF 6 NEW GAUCHER DISEASE MUTATIONS

The four most common mutations account for 97% of the Gaucher disease-producing alleles in Jewish patients and 75% of the alleles in non-Jewish patients. Although at least 15 other mutations and some examples of gene conversion and/or fusion genes have been described, a number of mutations remain unidentified. We have now identified six new mutations, a deletion of a C at the 72 position of the cDNA, a 481C → T mutation (122(pro → Ser)), a 751T → C (212(Tyr → His)), a 1549G → A (478(Gly → Ser)), a 1604G → A (496(Arg → His)), and a 55-bp deletion. All but one of these were found in single families. The 1604A mutation, however, was observed in four unrelated individuals. © 1993 Academic Press, Inc.