title: Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
abstract: The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.
authors.affiliation: Unité de Recherche « Exploration Moléculaire des Maladies Orphelines d'Origine Génétique », l'Institut Pasteur de Tunis, Tunis, Tunisie.
authors.forename: W
authors.initials: W
authors.lastname: Cherif
authors.forename: F Ben
authors.initials: FB
authors.lastname: Rhouma
authors.forename: A Ben
authors.initials: AB
authors.lastname: Chehida
authors.forename: H
authors.initials: H
authors.lastname: Azzouz
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
authors.forename: F
authors.initials: F
authors.lastname: Amri
authors.forename: J
authors.initials: J
authors.lastname: Chemli
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: M-F Ben
authors.initials: MF
authors.lastname: Dridi
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005952:Glucose-6-Phosphatase / Q000032:analysis / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D014416:Tunisia
chemical_list: D004247:DNA; D005952:Glucose-6-Phosphatase