title: Clinical and molecular analysis of a Japanese boy with Morquio B disease.
abstract: Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Ishii
authors.forename: T
authors.initials: T
authors.lastname: Oohira
authors.forename: A
authors.initials: A
authors.lastname: Oshima
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
authors.forename: K
authors.initials: K
authors.lastname: Sukegawa
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D001842:Bone and Bones / Q000000981:diagnostic imaging; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D016133:Polymerase Chain Reaction; D011859:Radiography; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase