The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease

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 dir...

Full description

Saved in:
Bibliographic Details
Published in:Human mutation 2002-04, Vol.19 (4), p.458-459
Main Authors: Orvisky, E., Park, J.K., Parker, A., Walker, J.M., Martin, B.M., Stubblefield, B.K., Uyama, E., Tayebi, N., Sidransky, E.
Format: Article
Language:English
Subjects:
acid
Alleles
beta
Consanguinity
Continental Population Groups - genetics
DNA Mutational Analysis
Ethnic Groups - genetics
Exons - genetics
Gaucher disease
Gaucher Disease - classification
Gaucher Disease - genetics
GBA
glucocerebrosidase
glucosidase
glucosidase, beta, acid
Glucosylceramidase - genetics
Humans
mutation analysis
Mutation, Missense - genetics
RNA Splice Sites - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2002 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9024