Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

► There is a high prevalence (1:5000) of MPS VI in the region of Monte Santo/BA/Brazil. ► We characterized the ARSB gene molecular background of these patients. ► All patients were found to be homozygous for the p.H178L mutation. ► We built haplotypes using intragenic SNPs to check for a possible common origin. ► We reinforce the need of a comprehensive community genetics program for this area.