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

E. Orvisky, J. K. Park, A. Parker, J. M. Walker, B. M. Martin, B. K. Stubblefield, E. Uyama, N. Tayebi, E. Sidransky

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)458-459
Number of pages2
JournalHuman mutation
Volume19
Issue number4
DOIs
StatePublished - Apr 2002

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease'. Together they form a unique fingerprint.

Cite this