Jornal de doenças genéticas e relatórios genéticos

Same Mutation in Two Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) Coming from Different Municipalities in the Department of Cauca, Southwestern Colombia

Acosta MA, Lago RM, Barros F and Carracedo AM

Mucopolysaccharidosis type VI or Maroteaux-Lamy syndrome is a lysosomal disease caused by an enzymatic disorder of N-acetylgalactosamine-4-sulfatase o arylsulfatase B. The diagnosis has generally been accepted with an ASB enzyme activity of <10 % of the lower limit of normal values in cultured fibroblasts or isolated leukocytes in an accredited laboratory with the presence of clinical findings consistent with MPS VI disease. The objective of this study is to make the molecular genetic characterization of two patients coming from two municipalities in the eastern and central areas of the Department, respectively, identified as having the severe clinical form of MPS type VI, and to determine the genotype-phenotype correlation. Genome DNA was isolated and used for the amplification of the 8 exons of the ARSB gene and the adjacent intron region (PCR). Sequencing was performed after purification of the amplified product. The same homozygous Cys447Phe mutation was found in the index cases of these two families coming from two different municipalities of the same department. The finding of the same mutation suggests the possibility of an ancestral allele, which would explain the frequency of the Maroteaux-Lamy syndrome in this region of Colombia.