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NA02013 DNA from Fibroblast

Description:

MUCOLIPIDOSIS II; ML2; ML II
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB

Affected:

Yes

Sex:

Male

Age:

2 WK (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity ARABIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Arab; fibroblasts show deficiencies for several lysosomal hydrolases; undetectable level of N-acetylglucosaminylphosphotransferase activity; GlcNAc-Phosphotransferase activity = <0.1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is a compound heterozygote: one allele has a duplication in exon 16 of the GNPTAB gene [3395_3398dupCTAC] resulting in a frameshift and truncation of the protein in the beta subunit [Y1079fsX1081] and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene [3665_3666delTC] resulting in a frameshift and truncation of the protein in the beta subunit [L1168fsX1172].

Characterizations

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PDL at Freeze 5.87
Passage Frozen 14
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
UDP-N-acetylglucosamine--lysosomal-enzyme N-acetylglucosaminephosphotransferase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.8.17; 0% activity.
 
Gene GNPTAB
Chromosomal Location 12q23.3
Allelic Variant 1 Y1079fsX1081; MUCOLIPIDOSIS II
Identified Mutation 4-BP DUP, 3395CTAC
 
Gene GNPTAB
Chromosomal Location 12q23.3
Allelic Variant 2 607840.0011; MUCOLIPIDOSIS II
Identified Mutation 2-BP DEL, 3665TC; In 8 of 9 pedigrees with ML II (252500) and 5 of 7 with ML IIIA (252600), Kudo et al. (Am J Hum Genet 78:451-463, 2006) identified a frameshift mutation in the GNPTAB gene consisting of deletion of 2 nucleotides (3665_3666delTC) beginning at leu1168 and leading to premature termination at amino acid 1172 (L1168fsX1172). This mutation was the most frequent in their study and was found in both the homozygous and compound heterozygous state, in combination with severe mutations (i.e., mutations preventing the generation of active enzyme) in ML II and with mild mutations (i.e., mutations allowing the generation of active enzyme) in ML IIIA.

Phenotypic Data

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Remarks Arab; fibroblasts show deficiencies for several lysosomal hydrolases; undetectable level of N-acetylglucosaminylphosphotransferase activity; GlcNAc-Phosphotransferase activity = <0.1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is a compound heterozygote: one allele has a duplication in exon 16 of the GNPTAB gene [3395_3398dupCTAC] resulting in a frameshift and truncation of the protein in the beta subunit [Y1079fsX1081] and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene [3665_3666delTC] resulting in a frameshift and truncation of the protein in the beta subunit [L1168fsX1172].

Publications

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Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006
PubMed ID: 16465621
 
Brauker JH, Wang JL, Nonlysosomal processing of cell-surface heparan sulfate proteoglycans. Studies of I-cells and NH4Cl-treated normal cells. J Biol Chem262:13093-101 1987
PubMed ID: 2958450
 
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
 
Kobayashi T, Shinnoh N, Goto I, Kuroiwa Y, Hydrolysis of galactosylceramide is catalyzed by two genetically distinct acid beta-galactosidases. J Biol Chem260:14982-7 1985
PubMed ID: 3934152
 
Brown WJ, Farquhar MG, Accumulation of coated vesicles bearing mannose 6-phosphate receptors for lysosomal enzymes in the Golgi region of I-cell fibroblasts. Proc Natl Acad Sci U S A81:5135-9 1984
PubMed ID: 6147848
 
Robey PG, Neufeld EF, Defective phosphorylation and processing of beta-hexosaminidase by intact cultured fibroblasts from patients with mucolipidosis III. Arch Biochem Biophys213:251-7 1982
PubMed ID: 6460470
 
Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL, Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. Am J Med Genet12:343-53 1982
PubMed ID: 6287841
 
Butterworth J, Priestman D, Susceptibility to neuraminidase of alpha-L-fucosidase and N-acetyl-beta- D-glucosaminidase of cystic fibrosis, I-cell and neuraminidase- deficient fibroblasts. Clin Chim Acta110:319-26 1981
PubMed ID: 7226536
 
Honey NK, Miller AL, Shows TB, The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases. Am J Med Genet9:239-53 1981
PubMed ID: 7282783
 
Koch G, Lalley PA, McAvoy M, Shows TB, Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Somatic Cell Genet7:345-58 1981
PubMed ID: 7292252
 
Reitman ML, Varki A, Kornfeld S, Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N- acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest67:1574-9 1981
PubMed ID: 6262380
 
Varki AP, Reitman ML, Kornfeld S, Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N- acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. Proc Natl Acad Sci U S A78:7773-7 1981
PubMed ID: 6461005

External Links

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dbSNP dbSNP ID: 10471
Gene Cards GNPTAB
NCBI Gene Gene ID:2795
NCBI GTR 252500 MUCOLIPIDOSIS II ALPHA/BETA
607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
OMIM 252500 MUCOLIPIDOSIS II ALPHA/BETA
607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Omim Description GNPTA DEFICIENCY
  I-CELL DISEASE; ICD
  MUCOLIPIDOSIS II; ML2; ML II
  N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE DEFICIENCY

Images

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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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