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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
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
Clinical Chemistry and Laboratory Medicine, Volume 47, No. 10, Year 2009
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Description
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. © 2009 by Walter de Gruyter Berlin New York.
Authors & Co-Authors
Endo, Yoriko
Japan, Tokyo
Okinaka Memorial Institute for Medical Research
Fateen, Ekram M.
Egypt, Giza
National Research Centre
El-Shabrawi, Mortada H.F.
Egypt, Giza
Cairo University
Aoyama, Yoshiko
Japan, Tokyo
Okinaka Memorial Institute for Medical Research
Ebara, Tetsu
Japan, Tokyo
Okinaka Memorial Institute for Medical Research
Murase, Toshio
Japan, Tokyo
Okinaka Memorial Institute for Medical Research
Podskarbi, Theodor
Germany, Munich
Molecular Genetics and Metabolism Laboratory
Shin, Yoon-sook
Germany, Munich
Molecular Genetics and Metabolism Laboratory
Okubo, Minoru
Japan, Tokyo
Okinaka Memorial Institute for Medical Research
Japan, Minato
Toranomon Hospital
Statistics
Citations: 11
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1515/CCLM.2009.281
ISSN:
14346621
e-ISSN:
14374331
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Locations
Egypt