Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.

ABSTRACT:

Background

Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans. MPS II has significant allelic heterogeneity, making the establishment of genotype-phenotype correlations difficult. This study assessed clinical features in combination with deep genotyping of a group of Colombian patients with MPS II and attempted to establish a degree of genotype-phenotype correlation by employing bioinformatic tools.

Methods

Eighteen patients were included in this study, 11% of whom were non-neuronopathic, and the other

SUBMITTER: Galvis J 

PROVIDER: S-EPMC4501242 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature