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Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
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Yoriko Endo
Veröffentlicht/Copyright:
16. September 2009
Abstract
Background: Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. Activity of both enzymes is lost in most patients with GSD III, but in the very rare subtype IIId, transferase activity is deficient. Since the spectrum of AGL mutations is dependent on the ethnic group, we investigated the clinical and molecular characteristics in Egyptian patients with GSD III.
Methods: Clinical features were examined in five Egyptian patients. AGL was sequenced and AGL haplotypes were determined.
Results: Six novel AGL mutations were identified: a large deletion (c.3481–3588+1417del1525 bp), two insertions (c.1389insG and c.2368insA), two small deletions (c.2223–2224delGT and c.4041delT), and a missense mutation (p.L620P). p.L620P was found in a patient with IIId. Each mutation was located on a different AGL haplotype.
Conclusions: Our results suggest that there is allelic and phenotypic heterogeneity of GSD III in Egypt. This is the second description of a large deletion in AGL. p.L620P is the second mutation found in GSD IIId.
Clin Chem Lab Med 2009;47:1233–8.
Received: 2009-5-3
Accepted: 2009-7-8
Published Online: 2009-09-16
Published in Print: 2009-10-01
©2009 by Walter de Gruyter Berlin New York
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Schlagwörter für diesen Artikel
AGL;
glycogen storage disease type III;
large deletion;
missense mutation;
transferase
Artikel in diesem Heft
- Editorial
- Cardiac troponins: what we knew, what we know – where are we now?
- Review
- Measurement of circulating concentrations of cardiac troponin I and T in healthy subjects: a tool for monitoring myocardial tissue renewal?
- Opinion Papers
- A critical appraisal of experimental factors influencing the definition of the 99th percentile limit for cardiac troponins
- Genetic and biochemical heterogeneity of cardiac troponins: clinical and laboratory implications
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- Counterpoint
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- Genetics and Molecular Diagnostics
- SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells
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- Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId
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