OMIA:002683-9615 : Fanconi syndrome, FAN1-related in Canis lupus familiaris (dog)

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613534 (gene) , 614817 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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Mapping: In an unpublished thesis, Farias (2011) reports a genome-wide linkage study involving 59 related Basenjis comprising 22 affecteds and 37 normals, each genotyped with 325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. The detailed information was published in 2024 (Farias et al. 2024).

Molecular basis: In an unpublished thesis, Farias (2011) reported whole-genome sequencing one affected Basenji and three unaffected dogs from other breeds, which eventually led to identification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). This work was later published in a peer-reviewed journal (Farias et al. 2024).

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, PMID:684432). 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. The basis of this test was initially described 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. The detailed information was published in 2024 (Farias et al. 2024).

Breed: Basenji (Dog) (VBO_0200120).
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
FAN1 FANCD2/FANCI-associated nuclease 1 Canis lupus familiaris 3 NC_051807.1 (38430387..38394079) FAN1 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 Year Published PubMed ID(s) Acknowledgements
683 Basenji (Dog) Fanconi syndrome FAN1 deletion, gross (>20) Naturally occurring variant UU_Cfam_GSD_1.0 3 NC_049224.1:g. 38383631_38383947del XM_038532604.1:c.2954_3090+181del XP_038388532.1:p.(L985Vfs19*) "317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1"; details reported by Farias et al. (2024; PMID:39596669) 2011 Reference not in PubMed; see OMIA 002683-9615 for reference details

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002683-9615: 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.

2024 Farias, F.H.G., Mhlanga-Mutangadura, T., Guo, J., Hansen, L., Johnson, G.S., Katz, M.L. :
FAN1 deletion variant in Basenji dogs with Fanconi syndrome. Genes (Basel) 15:1469, 2024. Pubmed reference: 39596669. DOI: 10.3390/genes15111469.
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. DOI: 10.2460/javma.2004.225.377.
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 43:1073-8, 1994. Pubmed reference: 8084281. DOI: 10.1016/0026-0495(94)90047-7.
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 41:253-9, 1992. Pubmed reference: 1542263. DOI: 10.1016/0026-0495(92)90267-e.
1990 Noonan, C.H.B., Kay, J.M. :
Prevalence and geographic distribution of Fanconi syndrome in Basenjis in the United-States. J Am Vet Med Assoc 197:345-9, 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. DOI: 10.1016/0026-0495(89)90173-x.
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. DOI: 10.1073/pnas.78.12.7769.
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 201:1129-31, 1978. Pubmed reference: 684432. DOI: 10.1126/science.684432.
Bovée, K.C., Joyce, T., Reynolds, R., Segal, S. :
Spontaneous Fanconi syndrome in the dog. Metabolism 27:45-52, 1978. Pubmed reference: 619225. DOI: 10.1016/0026-0495(78)90122-1.
1976 Easley, J.R., Breitschwerdt, E.B. :
Glucosuria associated with renal tubular dysfunction in three Basenji dogs J Am Vet Med Assoc 168:938-43, 1976. Pubmed reference: 1270337.

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  • Created by Imke Tammen2 on 02 May 2023
  • Changed by Imke Tammen2 on 02 May 2023
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  • Changed by Imke Tammen2 on 02 Dec 2024