OMIA:002683-9615 : Fanconi syndrome, FAN1-related in Canis lupus familiaris (dog)
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific name: spontaneous Fanconi syndrome, idiopathic Fanconi syndrome
Species-specific description: Information listed here was previously listed under OMIA:000366-9615 : Fanconi syndrome in Canis lupus familiaris
Mapping: In an unpublished thesis, Farias (2011) reports a genome-wide linkage study involving 59 related Basenjis comprising 22 affecteds and 37 normals, each genotyped with 325 microsatellites, that mapped this disorder to chromosome CFA3. Fine mapping of this chromosome with 29 additional microsatellites narrowed the candidate region to 2.7Mb (40,537,065 bp and 43,218,050 bp), which contains 11 identified genes.
Molecular basis: In an unpublished thesis, Farias (2011) reported whole-genome sequencing one affected Basenji and three unaffected dogs from other breeds, which eventually led to identification of a candidate causal mutation: "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3’ untranslated region of FAN1" (the gene encoding Fanconi anemia-associated nuclease 1). This mutation showed almost perfect association with Fanconi genotype in 78 Basenjis (there being one exception, namely an unaffected dog that was homozygous for the deletion).
Clinical features: Fanconi syndrome is a rare condition in dogs which results in abnormal renal function. More specifically, it causes reduced function of the proximal convoluted tubules (Yearley et al., 2004), resulting in reduced reabsorption of water, nutrients and electrolytes from the tubular fluid and their eventual loss in urine. The clinical consequences of this disease for the animal include polyuria and polydipsia, dehydration, weight loss and muscle weakness (Yearley et al., 2004). Most cases progress to renal failure within a few years of the onset of initial clinical signs Bovée et al. (1978, PMID684432).
IT thanks DVM student Harry Cahill, who provided the basis of this contribution in May 2023.
Genetic testing: The website of the Orthopedic Foundation for Animals (OFA) reports the availability of a DNA test for this disorder in the Basenji breed: https://ofa.org/diseases/?breed=BJ. To FN's knowledge, the basis of this test has not been published. It has been described, however, in a PhD thesis by Farias (2011) and a conference proceeding (Farias et al., 2012). Thanks to Mario Van Poucke and Kathy Davies for alerting FN to this thesis.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FAN1||FANCD2/FANCI-associated nuclease 1||Canis lupus familiaris||3||NC_051807.1 (38430387..38394079)||FAN1||Homologene, Ensembl , NCBI gene|
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
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|
|683||Basenji||Fanconi syndrome||FAN1||deletion, gross (>20)||Naturally occurring variant||3||"317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1"||2011||Reference not in PubMed; see OMIA 002683-9615 for reference details|
Cite this entry
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.
|2012||Farias F., Mhlanga-Mutangadura T., Taylor J.F., O'Brien D.P., Schnabel R.D., Johnson G.S. :|
|Whole genome sequencing shows a deletion of the last exon of Fan1 in Basenji Fanconi syndrome. In: Proceedings from the Advances in Canine and Feline Genomics and Inherited Diseases Conference. Visby, Sweden :51, 2012.|
|2011||Farias, F.H.G. :|
|Molecular genetic studies of canine inherited diseases. PhD thesis, University of Missouri http://hdl.handle.net/10355/14514:, 2011.|
|2005||Bax, HA. :|
|[Inventory of Fanconi syndrome in Basenji dogs in The Netherlands] Tijdschr Diergeneeskd 130:472-4, 2005. Pubmed reference: 16130757 .|
|2004||Yearley, JH., Hancock, DD., Mealey, KL. :|
|Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome. J Am Vet Med Assoc 225:377-83, 2004. Pubmed reference: 15328712 .|
|1994||Hsu, B.Y.L., Wehrli, S.L., Yandrasitz, J.R., Fenstermacher, E.A., Palmieri, M.J., Rea, C.T., Mcnamara, P.D., Bovee, K.C., Segal, S. :|
|Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome Metabolism - Clinical and Experimental 43:1073-1078, 1994. Pubmed reference: 8084281 .|
|1992||Hsu, B.Y.L., Mcnamara, P.D., Mahoney, S.G., Fenstermacher, E.A., Rea, C.T., Bovee, K.C., Segal, S. :|
|Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Metabolism - Clinical and Experimental 41:253-259, 1992. Pubmed reference: 1542263 .|
|1990||Noonan, C.H.B., Kay, J.M. :|
|Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United-States. Journal of the American Veterinary Medical Association 197:345-349, 1990. Pubmed reference: 2391269 .|
|1989||McNamara, PD., Rea, CT., Bovee, KC., Reynolds, RA., Segal, S. :|
|Cystinuria in dogs: comparison of the cystinuric component of the Fanconi syndrome in Basenji dogs to isolated cystinuria. Metabolism 38:8-15, 1989. Pubmed reference: 2909832 .|
|1985||Mainka, S.A. :|
|Fanconi syndrome in a Basenji. Can Vet J 26:303-5, 1985. Pubmed reference: 17422579 .|
|1982||Bovee, KC., Anderson, T., Brown, S., Goldschmidt, MH., Segal, S. :|
|Renal tubular defects of spontaneous Fanconi syndrome in dogs. Prog Clin Biol Res 94:435-47, 1982. Pubmed reference: 7122624 .|
|1981||Medow, MS., Reynolds, R., Bovee, KC., Segal, S. :|
|Proline and glucose transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome. Proc Natl Acad Sci U S A 78:7769-72, 1981. Pubmed reference: 6950417 .|
|1979||Bovée, K.C., Joyce, T., Blazer-Yost, B., Goldschmidt, M.S., Segal, S. :|
|Characterization of renal defects in dogs with a syndrome similar to the Fanconi syndrome in man. J Am Vet Med Assoc 174:1094-9, 1979. Pubmed reference: 438041 .|
|1978||Bovee, K.C., Joyce, T., Reynolds, R., Segal, S. :|
|The Fanconi syndrome in Basenji dogs: a new model for renal transport defects. Science 201:1129-1131, 1978. Pubmed reference: 684432 .|
|Bovée, K.C., Joyce, T., Reynolds, R., Segal, S. :|
|Spontaneous Fanconi syndrome in the dog. Metabolism 27:45-52, 1978. Pubmed reference: 619225 .|
|1976||Easley, J.R., Breitschwerdt, E.B. :|
|Glucosuria associated with renal tubular dysfunction in three Basenji dogs Journal of the American Veterinary Medical Association 168:938-943, 1976. Pubmed reference: 1270337 .|
- Created by Imke Tammen2 on 02 May 2023
- Changed by Imke Tammen2 on 02 May 2023
- Changed by Imke Tammen2 on 03 May 2023