Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is an autosomal recessive disease caused by the deficiency of arylsulfatase B (ARSB; N-acetyl-galactosamine-4-sulfatase, E.C.3.1.6.12), which is involved in the stepwise degradation of dermatan sulfate and chondroitin sulfate. The deficiency of this enzyme causes storage in the lysozomes and excretion in the urine of partially degraded dermatan sulfate. Twenty patients with MPSVI were analyzed, including 2 siblings. Genomic DNA from patients was extracted and amplified by PCR followed by analysis by single-strand conformation polymorphism (SSCP), which detects altered patterns in the single-stranded DNA. Amongst the patients analyzed for exon 8 of the ARSB gene, 5 patients presented an altered band pattern when compared to controls. After sequencing, we have detected a 23-bp deletion, extending from nucleotides 1,533 to 1,555, causing a frameshift and changing 2 amino acids before creating a premature stop codon at amino acid 514.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, 90035-003, Porto Alegre, RS Brazil.
Márcia Fernanda Gomes
MF
Petry
Tatiana
T
Dieter
Maira
M
Burin
Roberto
R
Giugliani
Sandra
S
Leistner
D001938:Brazil; D016022:Case-Control Studies; D016368:Frameshift Mutation; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000235:genetics*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
D020051:N-Acetylgalactosamine-4-Sulfatase