title: Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
abstract: We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterogeneity in phenotype is observed. So far, no evidence for a clear genotype-phenotype correlation has been found. Hum Mutat 15:381, 2000.
authors.affiliation: Department of Metabolic Diseases, Beatrix Children's Hospital, The Netherlands. J.P.Rake@bkk.azg.nl
authors.forename: J P
authors.initials: JP
authors.lastname: Rake
authors.forename: A M
authors.initials: AM
authors.lastname: ten Berge
authors.forename: G
authors.initials: G
authors.lastname: Visser
authors.forename: E
authors.initials: E
authors.lastname: Verlind
authors.forename: K E
authors.initials: KE
authors.lastname: Niezen-Koning
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005952:Glucose-6-Phosphatase