Mutational Analysis of Mucopolysaccharidosis in Iranian Patients

: Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide phenotypic distributions throughout the world. This study aimed to determine genetic polymorphisms, contributing most common types of MPS in 19 unrelated Iranian patients. The sequence coding region exon‐intron boundaries genes were analyzed by Sanger sequencing method. We used biochemical clinical characteristics subjects for analysis. A novel IDUA variant (c.99T>C, p.H33H), nonsense change (c.514C>T, p.R172*) exon 5 IDS gene, c.74G > (p. p.R24H) SGSH three variants including (c.607C>T (p.R203*), c.259G>C (p.A87P), c.683G>A (p.R228Q)) NAGLU (n-acetyl-alpha-glucosaminidase) predicted as pathogenic mutations. In conclusion, this broadened genotypic spectrum patients, facilitating definition disease-associated mutations, which help provide more effective approach carrier detection.