Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

ABSTRACT:

Introduction

Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the GALNS gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that the degree of evolutionary and chemical divergence of missense variants in GalN6S when compared to ancestral amino acids is associated with the severity of the syndrome, suggesting a genotype-phenotype correlation. There is little information on Latin American patients with MPS IV-A that replicate these findings. This study aimed to characterize the phenotype and genotype from patients with MPS IV-A, who are under Enzyme Replacement Therapy at the Children's Neuropsychiat

SUBMITTER: Cardenas JM 

PROVIDER: S-EPMC10601820 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature