OMIA 000366-9913 : Fanconi syndrome in Bos taurus

In other species: dog , horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 227810 (trait) , 138160 (gene)

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 second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
626 Braunvieh Fleckvieh Fanconi syndrome SLC2A2 delins, small (<=20) Naturally occurring variant ARS-UCD1.2 1 g.96472797_96472804delinsCATC c.771_778delinsCATC p.(L258fs16) 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 210909: FN changed c.771_778delTTGAAAAGinsCATC to c.771_778delinsCATC. Also, since the del is of 8 bp, the g. designation has been changed from g.97239973_97239976delTTGAAAAG (which encompasses a deletion of only 4bp) to g.97239973_97239980delinsCATC.

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: eine bislang unerkannte Erbkrankheit beim Braunvieh [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.
2015 Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., Fries, R. :
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics 16:312, 2015. Pubmed reference: 25927203. DOI: 10.1186/s12864-015-1483-7.
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