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NA06314 DNA from LCL

Description:

GLYCOGEN STORAGE DISEASE II
GLUCOSIDASE, ALPHA, ACID; GAA

Affected:

Yes

Sex:

Female

Age:

40 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Alternate IDs GM17323 [GLYCOGEN STORAGE DISEASE II]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity ITALIAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Adult onset; respiratory arrest; muscle weakness onset at age 35; GAA mRNA showed two bands: one normal size band (3.6 kb) of half-normal amount and one band of reduced amount and size (approximately 3 kb); alpha-1,4 glucosidase deficiency: 1-2% of normal activity in lymphoblasts; similarly affected sister; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two which contains a rare mutation has a G>C transversion at position +1 in intron 10 (IVS10+1G>C) which results in the splicing out of exon 10 including part of the enzyme catalytic site

Characterizations

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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 negative result with a primer for Yq11, DYS227.
 
alpha-glucosidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.20; 1-2% activity.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 1 606800.0006; GLYCOGEN STORAGE DISEASE TYPE II, ADULT FORM
Identified Mutation IVS1AS, T>G, -13; Huie et al. [Hum. Molec. Genet. 3: 2231-2236 (1994)] identified a T-to-G transversion at position -13 of the acceptor site of intron 1 of the GAA gene, resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2, in patients with the adult onset form of Pompe disease (232300). This mutation was found in 28 of 41 adult onset cases examined. Kroos et al. [J. Med. Genet. 32: 836-837 (1995)] showed this mutation in 38 of 50 heterozygous persons with the adult form of the disease and in 4 of 13 heterozygous patients with juvenile form, but did not find the mutation in children with the infantile form of Pompe disease.
 
Gene GAA
Chromosomal Location 17q25.2-q25.3
Allelic Variant 2 ; GLYCOGEN STORAGE DISEASE TYPE II
Identified Mutation IVS10+1G>C

Phenotypic Data

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Remarks Adult onset; respiratory arrest; muscle weakness onset at age 35; GAA mRNA showed two bands: one normal size band (3.6 kb) of half-normal amount and one band of reduced amount and size (approximately 3 kb); alpha-1,4 glucosidase deficiency: 1-2% of normal activity in lymphoblasts; similarly affected sister; donor subject is a compound heterozygote: allele one carries a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (IVS1-13T>G); the resulting alternatively spliced transcript has an in frame deletion of exon 2 which contains the initiation codon; allele two which contains a rare mutation has a G>C transversion at position +1 in intron 10 (IVS10+1G>C) which results in the splicing out of exon 10 including part of the enzyme catalytic site

Publications

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Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R, Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet3:2231-6 1994
PubMed ID: 7881425
 
Zhong N, Martiniuk F, Tzall S, Hirschhorn R, Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet49:635-45 1991
PubMed ID: 1652892
 
Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R, Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am J Hum Genet47:73-8 1990
PubMed ID: 2112341

External Links

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dbSNP dbSNP ID: 10860
Gene Cards GAA
Gene Ontology GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004558 alpha-glucosidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0005980 glycogen catabolism
GO:0006091 energy pathways
NCBI Gene Gene ID:2548
NCBI GTR 232300 GLYCOGEN STORAGE DISEASE II; GSD2
606800 GLUCOSIDASE, ALPHA, ACID; GAA
OMIM 232300 GLYCOGEN STORAGE DISEASE II; GSD2
606800 GLUCOSIDASE, ALPHA, ACID; GAA
Omim Description ACID MALTASE DEFICIENCY; AMD
  ALPHA-1,4-GLUCOSIDASE DEFICIENCYGLUCOSIDASE, ALPHA, ACID, INCLUDED; GAA, INCLUDED
  CARDIAC FORM OF GENERALIZED GLYCOGENOSIS
  CARDIOMEGALIA GLYCOGENICA DIFFUSA
  GLUCOSIDASE, ACID, ALPHA DEFICIENCY; GAA DEFICIENCY
  GLYCOGEN STORAGE DISEASE II
  POMPE DISEASE
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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