Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

ABSTRACT:

Background

As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study.

Methods

Genotyping was completed by amplification and Sanger sequencing of the GALNS gene. The SWISS-model platform was used for bioinformatic analysis, and mutant proteins were generated by homology from the wild-type GALNS code 4FDI template from the Protein Data Bank (PDB) database. Docking was performed using the GalNAc6S ligand (PubChem CID: 193456) by AutoDock Vina 1.0 and visualized in PyMOL and LigPlot+.

Results

Eleven variants were identified, and one new pathogenic variant was described in the heterozygous state, which is consistent with genotype c. 319

SUBMITTER: Tapiero-Rodriguez SM 

PROVIDER: S-EPMC5926073 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature