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Clinical and molecular analysis of a Japanese boy with Morquio B disease
Author(s) -
Ishii Nozomi,
Oohira Takahiko,
Oshima Akihiro,
Sakuraba Hitoshi,
Endo Fumio,
Matsuda Ichiro,
Sukegawa Kazuko,
Orii Tadao,
Suzuki Yoshiyuki
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04065.x
Subject(s) - disease , medicine , genetics , biology
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 β‐galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83 Tyr→ His (Y83H) and 482 Arg→Cys (R482C). The former expressed a low enzyme activity (2–5% of normal), and the latter expressed no detectable enzyme activity.