RGD Reference Report - Detection of 12 new mutations in Gaucher disease Brazilian patients. - Rat Genome Database

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Detection of 12 new mutations in Gaucher disease Brazilian patients.

Authors: Rozenberg, R  Fox, D C  Sobreira, E  Pereira, L V 
Citation: Rozenberg R, etal., Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9. Epub 2006 Oct 23.
RGD ID: 12791018
Pubmed: PMID:17059888   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bcmd.2006.09.004   (Journal Full-text)

Gaucher disease is the most frequent lysosome storage disease and presents an autosomal recessive mode of inheritance. It is caused by mutations at the GBA gene leading to deficient activity of the glucocerebrosidase enzyme. This report describes 12 new mutations [c.38A>G (K-27R), c.220G>A (G35S), c.448G>A (E111K), IVS4+1G>A, c.746C>T (A210V), c.776A>G (Y220C), c.793delC (Q226_fs4X), c.1102C>T (R329C), c.1300C>T (R395C), c.1309G>A (V398I), c.1324-1326delATT (delI403) and c.1583T>C (I489T)] and 4 novel silent alterations [c.342C>T (F75), c.528C>T (D137), c.1011C>T (D298) and c.1092G>A (G325)] detected among 40 unrelated Brazilian type 1 Gaucher disease patients by a combination of RFLP, dHPLC and DNA sequencing procedures. The R329C mutation, previously described in a Parkinson's disease patient (A. Lwin, E. Orvisky, O. Goker-Alpan, M.E. LaMarca, E. Sidransky. Glucocerebrosidase mutations in subjects with Parkinsonism. Mol. Genet. Metab. 81 (2004) 70-73), is described here for the first time in a Gaucher disease patient. Several genotype-phenotype correlations could be established, contributing significantly to the panel of reported mutations and conferring predictive value to their detection.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Gaucher's disease  IAGP 12791018DNA:mutations:cds and intron:multiple (human)RGD 
Gaucher's disease  ISOGBA1 (Homo sapiens)12791018; 12791018DNA:mutations:cds and intron:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gba1  (glucosylceramidase beta 1)

Genes (Mus musculus)
Gba1  (glucosylceramidase beta 1)

Genes (Homo sapiens)
GBA1  (glucosylceramidase beta 1)


Additional Information