The aim of this study was to detect common mutations in the acid β-glucosidase (GBA) gene in a cohort of Egyptian patients with Gaucher disease.
Patients and methods
A total of 34 children with hepatosplenomegaly and low β-glucocerebrosidase activity were enrolled to the study and screened for eight common mutations of β-glucocerebrosidase gene. Molecular analysis was performed either by using the mutation’s site-specific restriction endonucleases or by performing Sanger’s sequencing of the selected gene’s fragments. The eight screened mutations were N370S, L444P, 84GG, IVS2+1G>A, V394L, D409H, R496H, and P266L.
Sixteen (47%) patients were heterozygous for IVS2+1G>A (in exon 2) with an unidentified second allele. Thirteen (38.25%) were homozygous for L444P (in exon 10). Two (5.8%) were homozygous for N370S (in exon 9), and another two (5.8%) were compound heterozygous for L444P and IVS2+1G>A. Only one (2.9%) patient did not show any of the eight screened mutations.
There were only three mutations detected in our patients among the 68 alleles of the 34 patients. The most common was L444P in 28 alleles (43.75%), followed by IVS2+1G>A in 18 alleles (28%) and N370S in four (6.25%) alleles. The known mutations 84GG, V394L, D409H, R496H, and P266L were not identified in our cohort of patients.