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Mapping: In an unpublished thesis, Farias (2011) reports a genome-wide linkage study involving 59 related Basenjis comprising 22 affecteds and 37 normals, each genotyped with 325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Molecular basis: In an unpublished thesis, Farias (2011) reported whole-genome sequencing one affected Basenji and three unaffected dogs from other breeds, which eventually led to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