Clinical and molecular analysis of a Japanese boy with Morquio B disease.
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.
Ishii
N
N
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Oohira
T
T
Oshima
A
A
Sakuraba
H
H
Endo
F
F
Matsuda
I
I
Sukegawa
K
K
Orii
T
T
Suzuki
Y
Y
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*
D001616:beta-Galactosidase