OMIA:000366-9913 : Fanconi syndrome in Bos taurus (taurine cattle) |
In other species: dog , domestic cat , horse
Categories: Renal / urinary system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 227810 (trait) , 138160 (gene)
Mendelian trait/disorder: yes
Disease-related: 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:
Brown Swiss (Cattle) (VBO_0000166),
Fleckvieh-Simmental, Germany (Cattle) (VBO_0002354).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 (96452902..96485584) | SLC2A2 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 626 | Brown Swiss (Cattle) Simmental (Cattle) | Fanconi syndrome | SLC2A2 | delins, small (<=20) | Naturally occurring variant | ARS-UCD1.3 | 1 | NC_037328.1:g.96472797_96472804delinsCATC | NM_001103222.1:c.772_779delinsCATC | NP_001096692.1:p.(L258fs*16) | Previously listed as c.771_778delinsCATC, updated to NCBI transcript [29/08/2024] | 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. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:000366-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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