Novel pathogenic mutations in the glucocerebrosidase locus.
To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the development of Parkinson's disease, we contend that a complete analysis and molecular characterization of both the known and novel GBA1 variants will be needed before the biochemical processes underlying this genetic association can be fully understood.
Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. r.ogalla@ucl.ac.uk
Raquel
R
Duran
Alisdair
A
McNeill
Atul
A
Mehta
Derralyn
D
Hughes
Timothy
T
Cox
Patrick
P
Deegan
Anthony H V
AH
Schapira
John
J
Hardy
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D006113:United Kingdom; D055815:Young Adult
D005962:Glucosylceramidase