title: Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
abstract: beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of beta-mannosidase. Thirteen families with cases of beta-mannosidosis have been described including one case previously reported by our group. We present clinical and biochemical data in a new adult case, and the molecular analyses in both this new case and the one previously reported. We detected four novel mutations: p.R182W, p.G392E, p.W466X and c.1848delA. Discrepancies between genomic DNA and cDNA results when detecting this last deletion suggested a nonsense-mediated decay cell process (NMD).
authors.affiliation: Institut de Bioquímica Clínica, Hospital Clínic, Corporació Sanitària Clínic, Mejía Lequerica, s/n, Edifici Helios III, 08028 Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Gort
authors.forename: Joana
authors.initials: J
authors.lastname: Duque
authors.forename: José M
authors.initials: JM
authors.lastname: Fabeiro
authors.forename: Ander
authors.initials: A
authors.lastname: Zulaica
authors.forename: Maria Josep
authors.initials: MJ
authors.lastname: Coll
authors.forename: Amparo
authors.initials: A
authors.lastname: Chabás
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D020871:RNA Stability; D044902:beta-Mannosidase / Q000235:genetics*; D044905:beta-Mannosidosis / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D044902:beta-Mannosidase