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

@article{Santer2001TheMS,
  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},
  year={2001},
  volume={110},
  pages={21-29}
}
  • 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
    124 Citations
    Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3
    • 13
    Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
    • 28
    Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
    Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene
    • 8
    No mutation in the SLC2A2 (GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome
    • 13
    Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects
    • 11
    • Highly Influenced

    References

    SHOWING 1-10 OF 51 REFERENCES
    Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
    • 21
    • Highly Influential
    • PDF
    Mutation Analysis of the GLUT2 Gene in Patients with Fanconi-Bickel Syndrome
    • 53
    • Highly Influential
    • PDF
    Mutational analysis of GLUT1 (SLC2A1) in Glut‐1 Deficiency Syndrome
    • 135
    Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter
    • 16
    Autosomal dominant transmission of GLUT1 deficiency.
    • 94
    • PDF
    Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients
    • 24
    • Highly Influential
    • PDF
    A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity.
    • 87