OMIA 000366-9913 : Fanconi syndrome in Bos taurus

In other species: dog , horse

Possibly relevant human trait(s) and/or gene(s) (MIM number): 227810

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Cross-species summary: Also known as Fanconi-Bickel Syndrome (FBS)

Molecular basis: Burgstaller et al. (2016) have provided strong evidence that the FH2 frameshift mutation (see OMIA 001958-9913), namely c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2, is actually causative of Fanconi-Bickel syndrome in Fleckvieh cattle.

Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.

Clinical features: Joller et al. (2018): "The clinical examination [of the Braunvieh calf] showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality. Necropsy revealed a pale cortex of the kidneys and a unilateral renal hypoplasia. Histology showed tubulonephrosis of the proximal tubules with protein- and glucose-rich contents. Glycogen accumulation was not evident in any organ. This finding is different from the reported lesions in two previously described GLUT2-deficient Fleckvieh heifers. In the presented case, growth retardation mainly seems to be associated with renal dysfunction."

Breeds: Braunvieh, German Fleckvieh.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 Bos taurus 1 NC_037328.1 (96452863..96485584) SLC2A2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Braunvieh Fleckvieh Fanconi syndrome SLC2A2 indel, small (<=20) UMD3.1 1 g.97239973_97239976delTTGAAAAG c.771_778delTTGAAAAGinsCATC rs379675307 2016 27169150 Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Joller, S., Stettler, M., Locher, I., Dettwiler, M., Seefried, F., Meylan, M., Drögemüller, C. :
[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. Schweiz Arch Tierheilkd 160:179-184, 2018. Pubmed reference: 29509141. DOI: 10.17236/sat00152.
2016 Burgstaller, J., Url, A., Pausch, H., Schwarzenbacher, H., Egerbacher, M., Wittek, T. :
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). Berl Munch Tierarztl Wochenschr 129:132-7, 2016. Pubmed reference: 27169150.
1996 Deinhofer, M. :
Paradoxic glucosuria (fanconi syndrome) in a bull Veterinary Record 138:395-396, 1996. Pubmed reference: 8732194.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 13 Apr 2016
  • Changed by Frank Nicholas on 23 Mar 2018