Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

Abstract

Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date. Here, using a combination of different experimental approaches including PCR, sequencing and Southern blot analysis, we describe the identification and characterization of a new large deletion of the GBA1 gene due to an inter Alu recombination event.