The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

  title={The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome},
  author={R. Santer and Sebastian Groth and M. Kinner and A. Dombrowski and G. Berry and J. Brodehl and J. Leonard and S. Moses and S. Norgren and F. Skovby and R. Schneppenheim and B. Steinmann and J. Schaub},
  journal={Human Genetics},
  • R. Santer, Sebastian Groth, +10 authors J. Schaub
  • Published 2001
  • Biology, Medicine
  • Human Genetics
  • Abstract. We report a total of 23 novel mutations of the SLC2A2 (GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10 frameshift, 7 splice-site) have been detected. Thus, our results confirm that… CONTINUE READING
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