title: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
abstract: Glycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease.
authors.affiliation: Unit of Medical Genetics, Policlinico Le Scotte, Siena, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: A
authors.initials: A
authors.lastname: Orrico
authors.forename: P
authors.initials: P
authors.lastname: Marcolongo
authors.forename: R
authors.initials: R
authors.lastname: Fulceri
authors.forename: A
authors.initials: A
authors.lastname: Burchell
authors.forename: D
authors.initials: D
authors.lastname: Melis
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: C
authors.initials: C
authors.lastname: Lam
authors.forename: A
authors.initials: A
authors.lastname: Benedetti
authors.forename: V
authors.initials: V
authors.lastname: Sorrentino
mesh_terms: D017920:Antiporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter)