Jornal de doenças genéticas e relatórios genéticos

Identification of a Novel Mutation in the Human ARSB Gene on Chromosome 5q14.1 for Autosomal Recessive Mucopolysaccharidosis Type VI Patients in Southwest Colombia

Acosta MA, Lago RM,Barros F,Carracedo AM

Mucopolysaccharidosis VI is a rare lysosomal storage hereditary disease, caused by arylsulfatase B enzyme deficiency which leads to the accumulation of harmful amounts of dermatan sulfate. [1] Methods: A total of 32 MPS VI patients were identified in Colombia, sixteen (45 %) in the Department of Cauca, identified clinically and by enzymatic assay. Two of these individuals belong to the Guambiano Amerindian reservation. DNA extraction and sequencing for the region of the arylsulfatase B by ABI PRISM® 3100 Genetic Analyzer was performed for these two index cases and 22 of their relatives. A principal component analysis of the genetic haplotypes was also performed. Results: We found a novel single nucleotide change (p.Ser403X) in the ARSB gene, homozygous for the patient and heterozygous for their relatives, and classified as pathogenic. Cases and their relatives shared the same haplotype. Conclusion: Together with the genealogy analysis, these results suggest a common ancestral allele in the Guambiano Amerindian reservation in the Department of Cauca and a novel mutation for MPS VI.