title: Complementation studies in human and caprine beta-mannosidosis.
abstract: Cell fusions were performed to investigate the possible involvement of different gene mutations in five patients with isolated beta-mannosidosis and a patient with a combined deficiency of beta-mannosidase and heparin sulphate sulphamidase. In none of the combinations of cell lines was beta-mannosidase activity restored in the fused cell culture. Similarly, no complementation of sulphamidase activity was observed after fusion of cells with the combined deficiency and cells with isolated sulphamidase deficiency (mucopolysaccharidosis type IIIA). The absence of complementation suggests that the combined deficiency is not caused by a defect in one common factor affecting the two enzymes: The results rather indicate a rare coincidence of two independent mutations which are allelic with the mutation in the respective conditions with isolated enzyme deficiencies.
authors.affiliation: Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Hu
authors.forename: D A
authors.initials: DA
authors.lastname: Wenger
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000818:Animals; D002459:Cell Fusion; D002460:Cell Line; D002478:Cells, Cultured; D005816:Genetic Complementation Test; D006041:Goats; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D008361:Mannosidases / Q000172:deficiency / Q000235:genetics; D013045:Species Specificity; D008363:alpha-Mannosidosis / Q000235:genetics*; D044902:beta-Mannosidase
chemical_list: D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase; D008361:Mannosidases; D044902:beta-Mannosidase