Gaucher disease (GD) is an autosomal recessive glycolipid lysosomal storage disease caused by a deficiency of the beta-glucocerebrosidase enzyme (GBA). Allelic heterogeneity in GD has been well described. To date, more than 270 different GBA mutations have been reported. In order to determine the GBA mutation spectrum in Korean GD patients, we performed GBA mutation analysis of Korean patients and identified 72 GBA mutant alleles from 36 unrelated patients (100% identification), including 60 single-nucleotide substitutions, 6 single-nucleotide deletions, 4 recombinants, 1 splicing error, and 1 complex allele. N370S, the most common GBA mutation, was not detected, and most of the Korean GBA mutations were previously known to be rare, with the exception of L444P (~21%). Three mutations, P201H, F347L+L444P, and c.630delC, are novel. Examination of the GBA mutant alleles found in 6 ethnic groups revealed that the prevalences of GBA mutant alleles in Korean patients are very different from those seen in Jewish, non-Jewish Caucasian, and Italian patients, but similar to those seen in Japanese and Chinese patients. Our data may provide greater understanding of GBA allelic heterogeneity and an Asian perspective(1) on correlations between genotypes and phenotypes, which may help further the development of better management strategies for patients with GD.
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