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The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
Author(s) -
Orvisky E.,
Park J.K.,
Parker A.,
Walker J.M.,
Martin B.M.,
Stubblefield B.K.,
Uyama E.,
Tayebi N.,
Sidransky E.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9024
Subject(s) - glucocerebrosidase , missense mutation , biology , gene , gaucher's disease , glucocerebroside , genetics , mutation , disease , microbiology and biotechnology , medicine
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.