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NA02455 DNA from Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IVB
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I
GALACTOSIDASE, BETA-1; GLB1

Affected:

Yes

Sex:

Female

Age:

6 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
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Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 2
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Normal level of N-acetylgalactosamine 6sulfate sulfatase; low normal beta-galactosidase; donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H)

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
MUTATION VERIFICATION 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.
 
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.
 
Gene GLB1
Chromosomal Location 3p22.3
Allelic Variant 2 611458.0010; MUCOPOLYSACCHARIDOSIS TYPE IVB
Identified Mutation ARG482HIS

Phenotypic Data

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Remarks Normal level of N-acetylgalactosamine 6sulfate sulfatase; low normal beta-galactosidase; donor subject is a compound heterozygote with two mutations in the GLB1 gene: Trp273Leu (W273L)/Arg482His (R482H)

Publications

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Kiernan RE, Ono A, Englund G, Freed EO, Role of matrix in an early postentry step in the human immunodeficiency virus type 1 life cycle. J Virol72:4116-26 1998
PubMed ID: 9557701
 
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

External Links

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dbSNP dbSNP ID: 19587
Gene Cards GLB1
Gene Ontology GO:0004565 beta-galactosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0009341 beta-galactosidase complex
GO:0016798 hydrolase activity, acting on glycosyl bonds
GEO GEO Accession No: GSM1266980
GEO Accession No: GSM1267058
GEO Accession No: GSM651122
GEO Accession No: GSM651123
NCBI Gene Gene ID:2720
NCBI GTR 230500 GM1-GANGLIOSIDOSIS, TYPE I
253010 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
611458 GALACTOSIDASE, BETA-1; GLB1
OMIM 230500 GM1-GANGLIOSIDOSIS, TYPE I
253010 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
611458 GALACTOSIDASE, BETA-1; GLB1
Omim Description BETA-GALACTOSIDASE DEFICIENCY
  MORQUIO SYNDROME
  MORQUIO SYNDROME B
  MPS IVB
  MUCOPOLYSACCHARIDOSIS TYPE IVB

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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