title: Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
abstract: As Gaucher disease is an autosomal recessive disorder, most patients are either homozygotes or compound heterozygotes for glucocerebrosidase mutations. We have encountered a patient with three mutations, two c.1226A-->G (1226G, N370S) and one c.1448 T-->C (1448C, L444P). This was shown to be due to a gene conversion event in which the sequence of the glucocerebrosidase pseudogene that includes the 1448C mutation had been imposed on a glucocerebrosidase gene that already had the 1226G mutation. The patient had relatively mild disease which had been discovered after an attack of infectious mononucleosis, a relationship that has been observed previously. If it had not been recognized that this patient had the 1226G/1226G,1448C genotype, prenatal testing might have falsely identified a 1226G,1448C/wt (wild type) fetus as having Gaucher disease.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, Calif 92037, USA. beutler@scripps.edu
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: H
authors.initials: H
authors.lastname: Liebman
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
authors.forename: E
authors.initials: E
authors.lastname: Stefanski
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D005189:False Positive Reactions; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D006580:Genetic Carrier Screening; D005962:Glucosylceramidase / Q000235:genetics; D006720:Homozygote; D006801:Humans; D017354:Point Mutation
chemical_list: D005962:Glucosylceramidase