NA01602
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IVB
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
GALACTOSIDASE, BETA-1; GLB1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
3.92 |
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| beta-galactosidase |
Giugliani et al (Clin Genet 32:313-325 1987) assayed B-galactosidase activity in this fibroblast culture using 4-methylumbelliferyl B-Dgalactoside and with the alternative artificial substrates: 4MU B-Dfucoside and 4MU A-L-arabinoside. Deficient enzyme activity towards all of these substrates was observed. The respective observed values were 7.2% 2.6% and 1.2% of normal control activities. Oshima et al (Am J Hum Genet 49:1091-1093 1991) reported that DNA from this Morquio B disease patient had 2 mutations in the B-galactosidase gene: Trp-273>Leu and Arg-482>His. EC Number: 3.2.1.23; <7% activity. |
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| beta-glucuronidase |
Giugliani et al (Clin Genet 32:313-325 1987) assayed B-glucuronidase activity in this type IVB Morquio syndrome cell culture and observed normal B-glucuronidase enzyme activity levels. EC Number: 3.2.1.31 |
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| beta-galactosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.23; 4% activity. |
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 1 |
611458.0009; MUCOPOLYSACCHARIDOSIS, TYPE IVB |
| Identified Mutation |
TRP273LEU; In 3 affected individuals from 2 unrelated families with Morquio syndrome B (MPS4B; 253010), also known as mucopolysaccharidosis type IVB, Oshima et al. (1991) identified compound heterozygosity for 2 mutations in the GLB1 gene. All patients shared a heterozygous 851-852TG-CT change, resulting in a trp273-to-leu (W273L) substitution, and another pathogenic change (R482H, 611458.0010 and W509C, 611458.0011, respectively). The W273L mutant showed 8% residual enzyme activity, but the other mutations expressed no detectable enzyme activity. |
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| Gene |
GLB1 |
| Chromosomal Location |
3p22.3 |
| Allelic Variant 2 |
611458.0010; MUCOPOLYSACCHARIDOSIS TYPE IVB |
| Identified Mutation |
ARG482HIS |
| Remarks |
Normal level of N-acetylgalactosamine 6 sulfate sulfatase; less than 4% of control B-galactosidase activity using either 4MU-B-gal or GM1 ganglioside; similarly affected sister; donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H) |
| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
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| Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y, Human beta-galactosidase gene mutations in morquio B disease. Am J Hum Genet49:1091-3 1991 |
| PubMed ID: 1928092 |
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| Ahern-Rindell AJ, Murnane RD, Prieur DJ, Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. Somat Cell Mol Genet15:525-33 1989 |
| PubMed ID: 2512653 |
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| Giugliani R, Jackson M, Skinner SJ, Vimal CM, Fensom AH, Fahmy N, Sjovall A, Benson PF, Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). Clin Genet32:313-25 1987 |
| PubMed ID: 3121219 |
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| Kobayashi T, Shinnoh N, Kuroiwa Y, Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency. Biochim Biophys Acta875:115-21 1986 |
| PubMed ID: 3079639 |
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