Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.

ABSTRACT:

Background

Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients with MPSI.

Methods

Sanger sequencing was used to measure the IDUA gene sequence in the coding region and exon-intron boundaries. We recorded the clinical findings of studied patients at the first diagnosis of disease and then during the treatment and follow-up.

Results

Five different missense disease-causing mutations were determined in our patient groups, indicating 90.48% of detection rate. The most widespread mutation was the p.Y109H, occurring in 15.625% of all alleles, whi

SUBMITTER: Taghikhani M 

PROVIDER: S-EPMC6805319 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature