title: Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
abstract: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by deficiency of arylsulphatase B. The incidence of MPS VI is very low, usually less than 1 case for every 1,000,000 newborns. In Northeast Brazil we identified in the county of Monte Santo (52,360 inhabitants) thirteen patients with MPS VI. The aim of this work was to identify the mutation(s) present in these patients and analyze intragenic SNPs to define possible haplotypes. The 13 MPS VI patients were found to be homozygous for the p.H178L mutation. All patients have the same haplotype for the intragenic SNPs. Based on current data, the prevalence of MPS VI in this region is estimated as 1:5,000 newborns. These results, together with pedigree analysis, strongly suggest a founder effect accounting for the high frequency of p.H178L mutation in this area. This reinforces the need of a comprehensive community genetics program for this area.
authors: Medical Genetics Service, Hospital de Clínicas, Porto Alegre, RS, Brazil.
authors: Fabiana Moura
authors: FM
authors: Costa-Motta
authors: Angelina Xavier
authors: AX
authors: Acosta
authors: Kiyoko
authors: K
authors: Abé-Sandes
authors: Fernanda
authors: F
authors: Bender
authors: Ida Vanessa D
authors: IV
authors: Schwartz
authors: Roberto
authors: R
authors: Giugliani
authors: Sandra
authors: S
authors: Leistner-Segal
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D001938:Brazil / Q000453:epidemiology; D016000:Cluster Analysis; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D056726:Genetic Association Studies; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000453:epidemiology / Q000235:genetics*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase