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Forty\u2010seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the <jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u20106\u2010sulfatase (GALNS) reference sequence NM_000512.4, and gene variants were reported. Bioinformatics analysis was performed using SWISS\u2010MODEL. The mutant proteins were generated by homology from the wild\u2010type GALNS 4FDJ template obtained from the PDB database, and visualization was performed using Swiss\u2010PDBViewer and UCSF Chimera. The predictive analysis was run using different bioinformatic tools, and the deleterious annotation of genetic variants was performed using a neural network. We found that 79% and 21% of the cohort was homozygous and compound heterozygous, respectively. The most frequent mutation observed was p.Gly301Cys (78.3% of alleles), followed by p.Arg386Cys (10.4% of alleles). A novel mutation (p.Phe72Ile) was described and classified in silico as a pathogenic variant. This study reveals the mutation spectrum of MPS IVA in Colombia. The high prevalence of the p.Gly301Cys mutation suggests a founder effect of this variant in the Colombian population that causes diseases in the Andean region (via migration). These data can facilitate genetic counseling, prenatal diagnosis, and the design of therapeutic interventions.<\/jats:p>","DOI":"10.1002\/ajmg.c.31936","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T13:35:39Z","timestamp":1632144939000},"page":"388-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Molecular characterization of mucopolysaccharidosis type <scp>IVA<\/scp> patients in the Andean region of Colombia"],"prefix":"10.1002","volume":"187","author":[{"given":"Harry","family":"Pachajoa","sequence":"first","affiliation":[{"name":"Health Science Faculty and Congenital Abnormalities and Rare Diseases Research Center (CIACER) Universidad Icesi  Colombia"},{"name":"Fundaci\u00f3n Valle del Lili  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Amparo","family":"Acosta","sequence":"additional","affiliation":[{"name":"Health Science 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