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Keywords
Secuenciación de Exomas
Complejo de Mucopolisacaridosis
Enfermedades por Almacenamiento Lisosomal
Frecuencia Alélica (DeCS) Computational Biology
Exome sequencing
Mucopolysaccharidosis Complex
Lysosomal Storage Diseases
Allelic Frequency (DeCS)
How to Cite
Abstract
Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate (GAGs) in organs and tissues, due to the alteration in the genes that code for enzymes involved in the lysosomal degradation of glycosaminoglycans. Seven different types of MPS disorders (I, II, III, IV, VI, VII, and IX) are recognized with 11 specific lysosomal enzyme deficiencies. Colombia does not have exact data on the burden of the disease, nor data on the allelic frequency that allows knowing the presence of population variants and possible affected individuals and carriers. Objective: To determine the population allelic frequency of the variants of the MPS complex in a population without a clinical and molecular diagnosis of this pathology. Materials and methods: An observational descriptive study was carried out where the allelic frequency of variants present in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes associated with MPS was determined by means of the sequencing of 320 exomes from patients without a clinical diagnosis of MPS from the Southwest of Colombia; the results were tabulated and allelic frequency formulas were used to determine the values associated with each of the genes. Results: 509 alleles associated with the MPS complex were reported, of which 262 have not been previously reported. The genes with the most frequent allelic presence were IDUA, GLB1 and GALNS, involved in MPS I and MPS IV A. These studies allow us to know the population frequency of each of the variants associated with the MPS complex, which facilitates the timely identification of possible patients and carriers, and to carry out timely interventions that also include genetic counseling. Conclusions: With the advancement in genomic diagnostic methods, it is possible to expand the knowledge about the impact of the presence of variants of the genes associated with the MPS complex in our population, identification and establishment of comprehensive programs that bring us closer to precision medicine.
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