OMIA 000366-9615 : Fanconi syndrome in Canis lupus familiaris

In other species: horse , cattle

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Key variant is published: no

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

Mapping: In an unpublished thesis, Farias (2011) reports a genome-wide linkage study involving 59 related Basenjis comprising 22 affecteds and 37 normals, each genotyped with 325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Molecular basis: In an unpublished thesis, Farias (2011) reported whole-genome sequencing one affected Basenji and three unaffected dogs from other breeds, which eventually led to identification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).

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: http://www.offa.org/dnatesting/fanconi.html. 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). Thanks to Mario Van Poucke and Kathy Davies for alerting FN to this thesis.

Breeds: Basenji, Irish Wolfhound.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FAN1 FANCD2/FANCI-associated nuclease 1 Canis lupus familiaris 3 NC_006585.3 (38053096..38013744) 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.

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
Basenji Fanconi syndrome FAN1 deletion, gross (>20) "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 000366-9615 for reference details

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 Bommer, N.X., Brownlie, S.E., Morrison, L.R., Chandler, M.L., Simpson, J.W. :
Fanconi Syndrome in Irish Wolfhound Siblings. J Am Anim Hosp Assoc :, 2018. Pubmed reference: 29558216. DOI: 10.5326/JAAHA-MS-6439.
2014 Carmichael, N., Lee, J., Giger, U. :
Fanconi syndrome in dog in the UK. Vet Rec 174:357-8, 2014. Pubmed reference: 24700011. DOI: 10.1136/vr.g2554.
Major, A., Schweighauser, A., Hinden, S.E., Francey, T. :
Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats. Schweiz Arch Tierheilkd 156:593-8, 2014. Pubmed reference: 25497565. DOI: 10.1024/0036-7281/a000655.
2011 Farias, F.H.G. :
Molecular genetic studies of canine inherited diseases. PhD thesis, University of Missouri http://hdl.handle.net/10355/14514:, 2011.
Hooper, A.N., Roberts, B.K. :
Fanconi syndrome in four non-basenji dogs exposed to chicken jerky treats. J Am Anim Hosp Assoc 47:e178-87, 2011. Pubmed reference: 22058368. DOI: 10.5326/JAAHA-MS-5602.
2008 Hill, T.L., Breitschwerdt, E.B., Cecere, T., Vaden, S. :
Concurrent hepatic copper toxicosis and Fanconi's syndrome in a dog. J Vet Intern Med 22:219-22, 2008. Pubmed reference: 18289313. DOI: 10.1111/j.1939-1676.2007.0040.x.
2005 Bax, HA. :
[Inventory of Fanconi syndrome in Basenji dogs in The Netherlands] Tijdschr Diergeneeskd 130:472-4, 2005. Pubmed reference: 16130757.
2004 Hostutler, RA., DiBartola, SP., Eaton, KA. :
Transient proximal renal tubular acidosis and Fanconi syndrome in a dog. J Am Vet Med Assoc 224:1611-4, 1605, 2004. Pubmed reference: 15154730.
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.
1996 Darrigrandhaag, R.A., Center, S.A., Randolph, J.F., Lewis, R.M., Wood, P.A. :
Congenital Fanconi syndrome associated with renal dysplasia in 2 Border Terriers Journal of Veterinary Internal Medicine 10:412-419, 1996. Pubmed reference: 8947876.
1995 Bark, H., Perk, R. :
Fanconi Syndrome associated with amoxicillin therapy in the dog Canine Practice 20:19-22, 1995.
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.
Settles, E.L., Schmidt, D. :
Fanconi syndrome in a Labrador Retriever Journal of Veterinary Internal Medicine 8:390-393, 1994. Pubmed reference: 7884724.
1993 Escolar, E., Perezalenza, D., Diaz, M., Rodriguez, A. :
Canine Fanconi Syndrome Journal of Small Animal Practice 34:567-570, 1993.
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.

Edit History


  • Created by Frank Nicholas on 02 Apr 2011
  • Changed by Frank Nicholas on 15 Aug 2012
  • Changed by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 24 Mar 2018