Investigation of the Biochemical Changes of Sialidosis Disease and Its Relationship with NEU1 Gene in Two Khuzestanian Families by WES Method

Abstract

Background and Objectives: Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder caused by α-N-acetyl neuraminidase deficiency due to a mutation in the neuraminidase gene (NEU1) located at chromosomal locus 6p21.33. This genetic change leads to abnormal intracellular accumulation and urinary excretion of sialyloligosaccharides. The diagnostic method based on WES (Whole-Exome Sequencing) technology saves time and cost and provides the basis for more appropriate genetic counseling.