Description:
GLYCOGEN STORAGE DISEASE II
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
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Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
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 |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 1 |
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. |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 2 |
T737N; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
THR737ASN |
Remarks |
Clinically affected; probable classic infantile onset; no specific information provided as to enzyme activity or cardiac status and therefore could be an atypical infantile onset; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 525 in exon 2 of the GAA gene (c.525delT) resulting in a frameshift and premature termination of the protein [Glu176fsX45); the second allele has a C>A transversion at nucleotide 2210 (c.2210C>A) resulting in the substitution of asparagine for threonine at codon 737 [Thr737Asn (T737N)]; cross-reactive immunological material (CRIM)-positive status confirmed by Western blot and GAA sequencing analyses(PMID:24044919). |
Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013 |
PubMed ID: 24044919 |
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