title: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
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.
authors.affiliation: Laboratory of Human Cytogenetic, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. amira.mili@yahoo.fr
authors.forename: Amira
authors.initials: A
authors.lastname: Mili
authors.forename: Ilhem
authors.initials: I
authors.lastname: Ben Charfeddine
authors.forename: Ons
authors.initials: O
authors.lastname: Mamaï
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Labiba
authors.initials: L
authors.lastname: Adala
authors.forename: Abdelbasset
authors.initials: A
authors.lastname: Amara
authors.forename: Serena
authors.initials: S
authors.lastname: Pagliarani
authors.forename: Sabrina
authors.initials: S
authors.lastname: Lucchiarri
authors.forename: Sabrina
authors.initials: S
authors.lastname: Lucchiari
authors.forename: Abdelkarim
authors.initials: A
authors.lastname: Ayadi
authors.forename: Neji
authors.initials: N
authors.lastname: Tebib
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Harbi
authors.forename: Jihene
authors.initials: J
authors.lastname: Bouguila
authors.forename: Dorra
authors.initials: D
authors.lastname: H'Mida
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Khalifa
authors.initials: K
authors.lastname: Limem
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
mesh_terms: D000293:Adolescent; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014416:Tunisia
chemical_list: D006004:Glycogen Debranching Enzyme System; C030563:amylo-1,6-glucosidase