Affected genes: FAN1
Inheritance: Autosomal Recessive
Mutation:  CanFam 3.1 chr3:38013703-38014019: 317 bp deletion / 317 bp of exon 14 were deleted starting at the second exon14 nucleotide and extending into the 3' untranslated region of FAN1
OMIA link: 002683-9615


Appropriate breeds for testing: Basenji


Symptoms:
Fanconi syndrome is a hereditary disease affecting the kidneys. In an unpublished thesis, Farias (2011) reported whole-genome sequencing of an affected Basenji and three unaffected dogs of other breeds, which ultimately led to the identification of a candidate causative mutation: "317 bp of exon 14 have been deleted from the second nucleotide of exon 14 and extend into the 3' untranslated region of FAN1". This mutation has been shown to be associated with the Fanconi genotype in 78 Basenjis. However, it should be noted that one unaffected dog was homozygous for the deletion.


References:
Farias, F.H.G. : Molecular genetic studies of canine inherited diseases. PhD thesis, University of Missouri http://hdl.handle.net/10355/14514, 2011