Am J Hum Genet. 1991 Nov;49(5):1091-3.

Human beta-galactosidase gene mutations in morquio B disease.

Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y.

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Department of Clinical Genetics, Tokyo Metropolitan Institute of Medicine Science, Japan.

Abstract

Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as much as 8% of the normal allele's enzyme activity, but the other mutations expressed no detectable enzyme activity. We conclude that the unique clinical manifestations are specifically associated with mutation F, a common two-base substitution, in this disease.

PMID:: 1928092; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683264

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Clinical and molecular analysis of a Japanese boy with Morquio B disease. [Clin Genet. 1995]
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Ishii N, Oohira T, Oshima A, Sakuraba H, Endo F, Matsuda I, Sukegawa K, Orii T, Suzuki Y. Clin Genet. 1995 Aug; 48(2):103-8.
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Human beta-galactosidase gene mutations in morquio B disease.

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