Description:
GLYCOGEN STORAGE DISEASE II
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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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Other
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| 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. |
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| Gene |
GAA |
| Chromosomal Location |
17q25.2-q25.3 |
| Allelic Variant 2 |
606800.0014; GLYCOGEN STORAGE DISEASE TYPE II |
| Identified Mutation |
1-BP DEL, 525T; In a girl with the juvenile form of Pompe disease (232300), Hermans et al. (1994) identified compound heterozygosity for 2 mutations in the GAA gene: P545L (606800.0013) and a 1-bp deletion (525delT), resulting in premature termination of the protein at nucleotide positions 658 to 660. |
| Remarks |
Clinically affected; Eurasian; donor subject is a compound heterozygote: one allele has a T>G transversion at position -13 of the acceptor site of intron 1 of the GAA gene (c.-32-13T>G) resulting in alternatively spliced transcripts with deletion of the first coding exon, exon 2; the second allele has a 1 bp deletion at nucleotide 525 in exon 2 (c.525delT) resulting in a frameshift and premature termination of the protein [Glu176fsX45) |
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