Neurogenetics. 2025 Oct 17;26(1):73. doi: 10.1007/s10048-025-00853-4.
ABSTRACT
Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantly within the lysosomes of monocyte and macrophage cells. Using whole exome sequencing, we found the genetic basis of GD in six Iranian patients. All cases had consanguineous parents. Developmental regression, hepatosplenomegaly and motor delay were the most common signs of these cases. The pathogenic p.L483P (c.1448T > C) variant was found in three patients. Other cases were found to be homozygote for p.D448H (c.1342G > C), p.S235P (c.703T > C) and p.N409S (c.1226 A > G) variants, respectively. This study demonstrates the prevalence of a pathogenic GBA variant among Iranian patients. This information can facilitate molecular diagnosis of GD with lower cost.
PMID:41105357 | DOI:10.1007/s10048-025-00853-4
