Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

Abstract

Mutation analysis of IDUA gene in 20 MPS I patients revealed 39 mutant alleles. Pathogenicity of the novel mutations was verified by transient expression studies.

Haplotype analysis in Czech and Slovak population and in diagnosed patients was performed. Identified causative mutations in the 130 C-terminal amino acids indicate functional importance of the C-terminus of the IDUA protein.

Keywords

• mucopolysaccharidosis 1
• alpha-L-iduronidase
• mutation
• polymorphism
• haplotype
• alpha-l-iduronidase
• enzyme-replacement therapy
• bone-marrow-transplantation
• molecular-genetics
• hurler-syndrome
• tunisian families
• common mutation
• identification
• disease
• phenotype