title: [Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].
abstract: Recent advances in the molecular study of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B) are reviewed. Until now, 14 different mutations have been found in the beta-galactosidase gene in patients with this disorder. Gene mutations are heterogeneous, but common and specific mutations have been identified for three types of protracted clinical course; 51Ile-->Thr mutation for Japanese adult/chronic GM1-gangliosidosis, 201Arg-->Cys for Japanese late infantile/juvenile GM1-gangliosidosis and 273Trp-->Leu for Caucasian Morquio syndrome type B. These phenotype-specific mutant genes produce mutant proteins with significant residual enzyme activity, whereas mutant proteins associated with infantile GM1-gangliosidosis patients show complete loss of enzyme activity. The phenotypic variations of this disorder may be related to different mode of intracellular processing and turnover of mutant enzyme proteins.
authors.affiliation: Department of Medicine (Neurology), Shinshu University School of Medicine.
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: N
authors.initials: N
authors.lastname: Yanagisawa
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D016537:Gangliosidosis, GM1 / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D044465:White People / Q000235:genetics; D001616:beta-Galactosidase / Q000172:deficiency / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase