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Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.
Parvari, R; Lei, K J; Szonyi, L; Narkis, G; Moses, S; Chou, J Y.
Affiliation
  • Parvari R; Genetics Institute Soroka Medical Center, Beer Sheva, Israel. ruthi@bguvms.bgu.ac.il
Eur J Hum Genet ; 5(4): 191-5, 1997.
Article in En | MEDLINE | ID: mdl-9359038
Glycogen storage disease type 1a (von Gierke disease, GSD-1A) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The cloning of the G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD-1a. This, in turn, allows the development of non-invasive DNA-based diagnosis that provides reliable carrier testing and prenatal diagnosis. Here we report on two new mutations E110Q and D38V causing GSD-1a in two Hungarian patients. The analyses of these mutations by site-directed mutagenesis followed by transient expression assays demonstrated that E110Q retains 17% of G6Pase enzymatic activity while the D38V abolishes the enzymatic activity. The patient with the E110Q has G222R as his other mutation. G222R was also shown to preserve about 4% of the G6Pase enzymatic activity. Nevertheless, the patient presented with the classical severe symptomatology of the GSD-1a.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type I / Glucose-6-Phosphatase / Mutation Type of study: Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1997 Document type: Article Affiliation country: Israel Country of publication: United kingdom
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Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease Type I / Glucose-6-Phosphatase / Mutation Type of study: Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Europa Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1997 Document type: Article Affiliation country: Israel Country of publication: United kingdom