CLINICAL AND MOLECULAR ANALYSIS OF A JAPANESE BOY WITH MORQUIO-B-DISEASE

Authors
ISHII N OOHIRA T OSHIMA A SAKURABA H ENDO F MATSUDA I SUKEGAWA K ORII T SUZUKI Y
Citation
N. Ishii et al., CLINICAL AND MOLECULAR ANALYSIS OF A JAPANESE BOY WITH MORQUIO-B-DISEASE, Clinical genetics, 48(2), 1995, pp. 103-108
Citations number
22
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
2
Year of publication
1995
Pages
103 - 108
Database
ISI
SICI code
0009-9163(1995)48:2<103:CAMAOA>2.0.ZU;2-M
Abstract
Morquio B disease was found in a 15-year-old Japanese boy who presente d with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and P-galactosidas e was deficient in fibroblasts. Gene analysis revealed two mutant alle les, (83)Tyr-->His (Y83H) and (482)Arg-->Cys (R482C). The former expre ssed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.