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Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

Nature Genetics volume 17, pages 324326 (1997) | Download Citation

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Abstract

Fanconi-Bickel syndrome (FBS) is a rare autosomal-recessive inborn error of metabolism characterized by hepatorenal glycogen accumulation, Fanconi nephropathy and impaired utilization of glucose and galactose1. To date, no underlying enzymatic defect in carbohydrate metabolism has been identified. Therefore, and because of the impairment of both glucose and galactose metabolism, a primary defect of monosaccharide transport across membranes has been suggested1–4. Here we report mutations in the gene encoding the facilitative glucose transporter 2 (GLUT2) in three FBS families, including the original patient described in 1949 by Fanconi and Bickel5 Homozygous mutations were found in affected individuals, whereas all parents tested were heterozygous for the respective mutation. Because all detected mutations (δT446–449, C1251T and C1405T) predict truncated translation products that cannot be expected to have functional monosaccharide transport activity, GLUT2 mutations are probably the cause of FBS.

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Affiliations

  1. Department of Paediatrics, University of Kiel, Schwanenweg 20, D-24105 Kiel, Germany.

    • René Santer
    • , Reinhard Schneppenheim
    • , Anja Dombrowski
    •  & Jürgen Schaub
  2. Municipal Children's Hospital Esslingen, Germany

    • Hermann Götze
  3. Division of Metabolic and Molecular Diseases, Department of Paediatrics, University of Zurich, Switzerland. R.S. and R.Sch. contributed equally to this work.

    • Beat Steinmann

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Correspondence to René Santer.

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https://doi.org/10.1038/ng1197-324