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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
Journal of Human Genetics, Volume 57, No. 3, Year 2012
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Description
Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033-3036del AATT and 3216-3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A>G). Each mutation is associated to a specific haplotype. This is the first report of screening for mutations of AGL gene in the Tunisian population. © 2012 The Japan Society of Human Genetics All rights reserved.
Authors & Co-Authors
Mili, Amira
Tunisia, Sousse
Hopital Farhat Hached Sousse
Tunisia, Sousse
Faculty of Medicine Sousse
Ben Charfeddine, Ilhem
Tunisia, Sousse
Hopital Farhat Hached Sousse
Mamaï, Ons
Tunisia, Sousse
Hopital Farhat Hached Sousse
Cherif, Wafa
Tunisia, Tunis
Institut Pasteur de Tunis
Adala, Labiba
Tunisia, Sousse
Hopital Farhat Hached Sousse
Amara, Abdelbasset
Tunisia, Sousse
Hopital Farhat Hached Sousse
Pagliarani, Serena
Italy, Milan
Università Degli Studi Di Milano
Lucchiari, Sabrina
Italy, Milan
Università Degli Studi Di Milano
Ayadi, Abdelkarim
Tunisia, Mahdia
Hôpital Tahar Sfar
Tebib, Néji
Tunisia, Tunis
Hôpital la Rabta
Harbi, Abdelaziz
Tunisia, Sousse
Chu Sahloul
Bouguila, Jihène
Tunisia, Sousse
Hopital Farhat Hached Sousse
H´mida, Dorra
Tunisia, Sousse
Hopital Farhat Hached Sousse
Saâd, Ali
Tunisia, Sousse
Hopital Farhat Hached Sousse
Limem, Khalifa
Tunisia, Sousse
Faculty of Medicine Sousse
Comi, Giacomo Pietro
Italy, Milan
Università Degli Studi Di Milano
Gribaa, Moez
Tunisia, Sousse
Hopital Farhat Hached Sousse
Statistics
Citations: 25
Authors: 17
Affiliations: 7
Identifiers
Doi:
10.1038/jhg.2011.122
ISSN:
14345161
e-ISSN:
1435232X
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Cross Sectional Study