Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis

Autor: Barkaoui, E., Cherif, W., Tebib, N, Charfeddine, C, Ben Rhouma, F, Azzouz, H, Ben Chehida, A, Monastiri, K, Chemli, J, Amri, F, Ben Turkia, H, Abdelmoula, S, Kaabachi, N, Abdelhak, S, Ben Dridi, M F, Barkaoui, H, Cherif, C
Přispěvatelé: Département de Pédiatrie, Unité des maladies métaboliques héréditaires, Hôpital La Rabta [Tunis], Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Département pédiatrique [Hôpital Fattouma Bourguiba - Monastir], CHU Fattouma Bourguiba [Monastir] (HFB), Department of Pediatrics, Sahloul Hospital, Sousse, Tunisia, Service de Pédiatrie, Hôpital de Kairouan, Biochimie
Rok vydání: 2007
Předmět:
G6PC
congenital
hereditary
and neonatal diseases and abnormalities
MESH: Mutation
Tunisia
[SDV]Life Sciences [q-bio]
Mutant
DNA Mutational Analysis
Biology
Glycogen Storage Disease Type I
Short stature
Polymerase Chain Reaction
03 medical and health sciences
Genetics
medicine
Glycogen storage disease
Humans
Allele
MESH: DNA Mutational Analysis
Genetics (clinical)
Alleles
030304 developmental biology
0303 health sciences
MESH: Humans
MESH: Glycogen Storage Disease Type I
MESH: Polymorphism
Restriction Fragment Length
MESH: Alleles
030305 genetics & heredity
nutritional and metabolic diseases
MESH: Polymerase Chain Reaction
medicine.disease
MESH: Glucose-6-Phosphatase
3. Good health
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Mutation (genetic algorithm)
Mutation
Mutation testing
Glucose-6-Phosphatase
Restriction fragment length polymorphism
medicine.symptom
MESH: Tunisia
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Polymorphism
Restriction Fragment Length
Zdroj: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2007, 30 (6), pp.989. ⟨10.1007/s10545-007-0737-1⟩
ISSN: 1573-2665
0141-8955
DOI: 10.1007/s10545-007-0737-1⟩
Popis: International audience; Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by short stature, hepatomegaly, hypoglycaemia, hyperuricaemia, and lactic acidaemia. Various mutations have been reported in the G6Pase gene (G6PC). In order to determine the mutation spectrum in Tunisia, we performed mutation analysis in 22 Tunisian type I glycogen storage disease (GSD I) patients belonging to 18 unrelated families. All patients were clinically classified as GSD Ia. The R83C mutation was found to be the major cause of GSD Ia, accounting for 24 of 36 mutant alleles (66.6%), The R170Q mutation was the second most frequent mutation; it accounts for 10 of 36 mutant alleles (27.7%). The R83C and R170Q mutations could be rapidly detected by PCR/RFLP. Since the majority of Tunisian patients carried R83C and/or R170Q mutations, we propose direct screening of these mutations as a rapid, valuable and noninvasive tool for diagnosis of GSD Ia in Tunisian as well as in Northern African populations.
Databáze: OpenAIRE
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