title: Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
abstract: Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). A study of the molecular basis of GSD Ia was carried out in 12 Czech and Slovak GSD Ia patients from 10 unrelated families. Mutation analysis was performed for the entire coding region of G6Pase gene using DGGE, sequencing and PCR/digestion. With the strategy used, all mutant alleles were identified in this study. Three novel mutations (K76N, V166A and 540del5), six previously described mutations (W77R, R83C, G188R, R295C, Q347X and 158delC) and one known polymorphism (1176T-->C) were detected. The most common mutation identified was R83C, accounting for 8 out of 20 (40%) mutant alleles. The K76N mutation was found in a Gypsy family: two siblings with GSD Ia were homozygous for this mutation. These findings expand our knowledge of mutations responsible for glycogen storage disease type Ia.
authors.affiliation: Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Cernopolní 9, CZ-66262 Brno, Czech Republic. liborkoz@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Kozák
authors.forename: H
authors.initials: H
authors.lastname: Francová
authors.forename: E
authors.initials: E
authors.lastname: Hrabincová
authors.forename: S
authors.initials: S
authors.lastname: Stastná
authors.forename: K
authors.initials: K
authors.lastname: Pesková
authors.forename: M
authors.initials: M
authors.lastname: Elleder
mesh_terms: D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D018153:Czech Republic; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008239:Lysine / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017384:Sequence Deletion; D018154:Slovakia; D014633:Valine / Q000235:genetics
chemical_list: D001216:Asparagine; D005952:Glucose-6-Phosphatase; D014633:Valine; D008239:Lysine; D000409:Alanine