Journal of Inherited Metabolic Disease

, Volume 18, Issue 1, pp 21–27 | Cite as

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

  • R. Parvari
  • S. Moses
  • E. Hershkovitz
  • R. Carmi
  • N. Bashan
Article

Summary

Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C → T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position 83 into a Cys codon, as the single mutation detected in six Jewish patients. This finding suggests that this mutation might be prevalent among the Jewish population. A new missense mutation T → G at nucleotide 576 resulting in V166G was found in an Arab Muslim patient. These families may benefit now from pre- and postnatal diagnosis by analysis of DNA from blood and amniotic fluid or chorionic villus cells rather than liver biopsy. No mutations in the G6Pase gene were detected in two GSD 1b patients.

Keywords

Jewish Population Glycogen Storage Disease Chorionic Villus Autosomal Recessive Disease Postnatal Diagnosis 

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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • R. Parvari
    • 1
  • S. Moses
    • 3
  • E. Hershkovitz
    • 3
  • R. Carmi
    • 1
  • N. Bashan
    • 2
  1. 1.Genetic InstituteBen Gurion University of the NegevBeer ShevaIsrael
  2. 2.Pediatric Biochemistry LaboratoryBen Gurion University of the NegevBeer ShevaIsrael
  3. 3.Pediatric Division, Soroka Medical Center, Faculty of Health SciencesBen Gurion University of the NegevBeer ShevaIsrael

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