title: Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.
abstract: We describe a large consanguineous German-Acadian ("Cajun") family from a rural area in Louisiana in which 11 persons in two generations had the Maroteaux-Lamy syndrome. The mutant arylsulfatase B enzyme in this family was similar to the mutant enzyme in previously studied families in its cross-reactivity with specific antibodies to the enzyme, but it differed in both its electrophoretic mobility and its residual enzymatic activity. These findings indicate that a different mutational event leading to Maroteaux-Lamy syndrome occurred in this family.
mesh_terms: D002648:Child; D002803:Chondro-4-Sulfatase / Q000235:genetics / Q000276:immunology / Q000302:isolation & purification; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007120:Immunochemistry; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009087:Mucopolysaccharidosis VI / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D009154:Mutation
chemical_list: D002803:Chondro-4-Sulfatase