Case Report: Novel Pathogenic Variant Detected in Two Siblings with Type 1 Gaucher Disease

Abstract

Background: Gaucher disease (GD) is an autosomal recessive lysosomal storage disease. The disease develops due to glucocerebrosidase enzyme deficiency caused by biallelic pathogenic variants in the glucosylceramidase beta 1 (GBA1) gene, which encodes the glucocerebrosidase en-zyme. The GBA1 gene is located at chromosomal location 1q22 and consists of 11 exons. In this article, we report a novel pathogenic variant in the GBA1 gene. Case Presentations: A 32-year-old female patient with no known chronic disease was admitted with complaints of weakness, bone pain, and abdominal pain. Her evaluation included hepatosplenomeg-aly, thrombocytopenia, osteoporosis, and anemia. The clinical suspicion of Gaucher disease was confirmed by glucocerebrosidase enzyme level and genetic testing. In her family screening, her sister also had hepato-splenomegaly, osteoporosis, thrombocytopenia, and anemia. Both sisters had no neurological symptoms. As a result of GBA1 gene sequence analysis in two of our patients, a missense variant was detected in the c.593C > A homozygous genotype. This variant has not been reported in any previously published case. Conclusion: In this case report, we aimed to contribute to the literature by reporting a new novel pathogenic variant in the GBA1 gene leading to type 1 Gaucher disease that has not been described before.