Browsing by Author "Terranova, Daniela Arturo"
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Item Importance of Long-Term Follow-Up in the Prognosis of Mucopolysaccharidosis IV-A: A Case Report from Southwestern of Colombia(Latin American Society Inborn Errors and Neonatal Screening, 2025) Marín, Mariana Ardila; Toro, Carlos Arturo Caicedo; Banguero, Jeyson Steven Rojas; Soto, José María Satizabal; Terranova, Daniela ArturoMucopolysaccharidosis IV-A (MPS IV-A) is an autosomal recessive genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase, leading to the accumulation of chondroitin-6-sulfate (C6S) and keratan sulfate (KS). This is a rare disease, and, in Colombia, it is classified as an orphan disease under Resolution 023 of 2023. Notably, its incidence in Colombia is higher than that reported in other countries worldwide. Genomic analysis of the GALNS gene has identified more than 400 variants in affected individuals, enabling genotype-phenotype correlations. We report the case of a patient who was initially presented at the age of 5 with short stature, lower limb dysmetria, and genu valgum. Physical examination revealed coarse facial features, a short neck, pectus carinatum, multiple joint deformities, and ligamentous hyperlaxity. Enzymatic activity of GALNS was reported at 0.06 mmol/mL/hour, and complete sequencing of the GALNS gene was performed using next-generation sequencing (NGS) technology, identifying the homozygous variant c.239C>T (p.Ser80Leu), which is associated with MPS IV-A. A bioinformatic analysis classified this variant as pathogenic. This case underscores the importance of clinical presentation, the use of diagnostic methodologies, and confirmation through molecular and bioinformatic studies for an accurate and timely diagnosis, as well as the critical value of appropriate clinical follow-up.Item Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease(2021) Terranova, Daniela Arturo; Giraldo, Lina Johanna Moreno; Idrobo, Henry; Satizabal, José MaríaIntroduction: Gaucher’s disease (GD) is an autosomal-recessive lysosomal storage disorder that results from hereditary deficiency of the acid glucocerebrosidase enzyme, encoded by the GBA gene necessary for the degradation of glucosylceramide. Objective: molecularly characterize the variants found in the GBA gene present in patients from the Southwest of Colombia with GD. Material and methods: 19 patients were included in the study, clinically and enzymatically diagnosed with GD. A molecular analysis of the GBA gene was performed and the variants were subsequently searched in different population and clinical databases. A bioinformatic analysis was performed. Results: The variants in the GBA gene reported were classified into: 14/19 homozygous patients, 4/19 compound heterozygote and 1/19 heterozygous. The presence of 7 variants coding for 8 different genotypes was reported. Also the known mutations like Asn409Ser, p.Leu483Pro, p.Lys237Glu, p.Glu427Lys, and p.Arg535His were identified in these patients. The most frequent genotype was p. Asn409Ser / Asn409Ser (36%). All the variants presented a pathogenic clinical significance. Conclusion: The given study will make it possible to understand the susceptibility to GD in the population. This can help maintain the health quotient of the population through premarital counseling and therefore minimize the burden of disease among the population.