A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846.

PMID: 35592045

Houweyda Jilani, Faten Hsoumi, Imen Rejeb

Highlights: This report highlights the necessity of screening the Tunisian population for the rare p.Arg87Trp variant.

Abstract

Objective: A rare metabolic disease called Gaucher disease (GD) is caused by pathogenic variants in the GBA gene. In the Tunisian population, it is described the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene.

Results: A female Arab patient was evaluated at the age of 26 because she had been experiencing headaches, bone pain, and abdominal distension since she was 25. Splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor were all discovered during the physical examination. Gaucher cells were seen infiltrating the bone marrow. The patient had a rare p.Arg87Trp homozygous variant, which is known to have a mild phenotype.

Conclusion: This study emphasizes the need to screen the Tunisian population for this rare variant.

Keywords: GBA gene, Gaucher disease, R48W, p.Arg87Trp, rare pathogenic variant