Research Article

Genomic variability of the mucopolysaccharidosis complex in southwestern Colombia

Published: June 30, 2020
Genet. Mol. Res. 19(2): GMR18502 DOI: 10.4238/gmr18502

Abstract

Mucopolysaccharidosis (MPS) related information in Colombia is limited. A descriptive research involving results obtained in the full exome sequencing of 244 patients with different types of pathologies and not clinically diagnosed with MPS was carried out with the purpose of examining the genomic variability of genes associated with the MPS complex in South West Colombia, considering that it is a region where MPS cases are constantly reported. Bioinformatics software was applied with the purpose of analyzing the clinical significance of the different variants. The frequency of each of the variants was calculated, and an interaction network of the genes found within the MPS complex was developed. We found 509 different gene MPS complex variants, of which 262 were not previously reported. The most frequent genes were IDUA, GLB1 and GALNS, involving MPS I and MPS IV A/ B. In the entire MPS complex 9/244 variants were found associated with pathogenesis. Among the 509 variants, we found 27% missense, 2% non-coded 21% synonyms, 1.8% located within the splice region, 3% upstream, and 4.5% in the UTR region. These gene and allelic frequencies of the MPS complex will alert the medical community to the presence of the variants of the genes associated with MPS in the population in order to establish early diagnosis programs. This will allow specific treatment for some of them, associated with transdisciplinary management that minimizes the morbidity and mortality attributed to this disease, including adequate genetic counseling.

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