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
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Biochemical characterization - other
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
R190H; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
ARG190HIS |
|
Gene |
GAA |
Chromosomal Location |
17q25.2-q25.3 |
Allelic Variant 2 |
606800.0012; GLYCOGEN STORAGE DISEASE TYPE II |
Identified Mutation |
EX18DEL; Van der Kraan et al. [Biochem. Biophys. Res. Commun. 203: 1535-1541 (1994)] reported that deletion of exon 18 of the GAA gene is a frequent mutation in Pompe disease (232300). Huie et al. [Hum. Molec. Genet. 3: 2231-2236 (1994)] found this mutation in patients with both infantile and adult forms of this disease. Vorgerd et al. [Neurogenetics 1: 205-211 (1998)] found homozygosity for the exon 18 deletion in 2 affected sibs and an unrelated patient with adult type GSD II. |
Remarks |
Clinically affected; adult onset; severe muscle weakness & wasting; respiratory muscle insufficiency; muscle biopsy showed acid maltase deficiency; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 569 of the GAA gene (c.569G>A) resulting in the substitution of histidine for arginine at codon 190 [Arg190His (R190H)]; the second allele has a deletion extending from an 8 nucleotide long AGGGGCCG sequence starting from nucleotide 102 downstream of exon 17 to exactly the same sequence starting at nucleotide 32 downstream of exon 18 (c.2481+102_2646+31del; p.Gly828_Asn882del); 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 |
|
|