Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Amira Mili, Ilhem Ben Charfeddine, Ons Mamaï, Wafa Cherif, Labiba Adala, Abdelbasset Amara, Serena Pagliarani, Sabrina Lucchiari, Abdelkarim Ayadi, Neji Tebib, Abdelaziz Harbi, Jihene Bouguila, Dorra H'Mida, Ali Saad, Khalifa Limem, G. P. Comi, Moez Gribaa

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)170-175
Number of pages6
JournalJournal of Human Genetics
Volume57
Issue number3
DOIs
Publication statusPublished - Mar 2012

Fingerprint

Glycogen Storage Disease Type III
Mutation
Nonsense Codon
amylo-1,6-glucosidase
Glycogen Debranching Enzyme System
Genes
Inborn Errors Metabolism
RNA Splice Sites
Denmark
Glycogen
Ethnic Groups
Haplotypes
Population
Myocardium
Skeletal Muscle
Chromosomes
Liver

Keywords

  • AGL gene
  • amylo-1,6-glucosidase
  • founder effect
  • glycogen storage disease type III
  • haplotype analysis
  • novel mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mili, A., Ben Charfeddine, I., Mamaï, O., Cherif, W., Adala, L., Amara, A., ... Gribaa, M. (2012). Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. Journal of Human Genetics, 57(3), 170-175. https://doi.org/10.1038/jhg.2011.122

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. / Mili, Amira; Ben Charfeddine, Ilhem; Mamaï, Ons; Cherif, Wafa; Adala, Labiba; Amara, Abdelbasset; Pagliarani, Serena; Lucchiari, Sabrina; Ayadi, Abdelkarim; Tebib, Neji; Harbi, Abdelaziz; Bouguila, Jihene; H'Mida, Dorra; Saad, Ali; Limem, Khalifa; Comi, G. P.; Gribaa, Moez.

In: Journal of Human Genetics, Vol. 57, No. 3, 03.2012, p. 170-175.

Research output: Contribution to journalArticle

Mili, A, Ben Charfeddine, I, Mamaï, O, Cherif, W, Adala, L, Amara, A, Pagliarani, S, Lucchiari, S, Ayadi, A, Tebib, N, Harbi, A, Bouguila, J, H'Mida, D, Saad, A, Limem, K, Comi, GP & Gribaa, M 2012, 'Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III', Journal of Human Genetics, vol. 57, no. 3, pp. 170-175. https://doi.org/10.1038/jhg.2011.122
Mili, Amira ; Ben Charfeddine, Ilhem ; Mamaï, Ons ; Cherif, Wafa ; Adala, Labiba ; Amara, Abdelbasset ; Pagliarani, Serena ; Lucchiari, Sabrina ; Ayadi, Abdelkarim ; Tebib, Neji ; Harbi, Abdelaziz ; Bouguila, Jihene ; H'Mida, Dorra ; Saad, Ali ; Limem, Khalifa ; Comi, G. P. ; Gribaa, Moez. / Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. In: Journal of Human Genetics. 2012 ; Vol. 57, No. 3. pp. 170-175.
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