title: The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
abstract: Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T-->A) were identified by direct sequencing of three amplified segments of the glucocerebrosidase gene. Five of the novel mutations were found in patients with neuronopathic forms of Gaucher disease, two of which, K198E and F251L, appear to be associated with type 2 Gaucher disease.
authors.affiliation: Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
authors.forename: E
authors.initials: E
authors.lastname: Orvisky
authors.forename: J K
authors.initials: JK
authors.lastname: Park
authors.forename: A
authors.initials: A
authors.lastname: Parker
authors.forename: J M
authors.initials: JM
authors.lastname: Walker
authors.forename: B M
authors.initials: BM
authors.lastname: Martin
authors.forename: B K
authors.initials: BK
authors.lastname: Stubblefield
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: N
authors.initials: N
authors.lastname: Tayebi
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000483:Alleles; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; D005962:Glucosylceramidase