Fanconi Syndrome

Gene : FAN1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, FAN1 gene; 317 bp of exon 14

Medical system: Renal

Breeds: American Staffordshire Terrier/Amstaff, Basenji, Chihuahua, Great Dane, Pug

References:

OMIA link: [2683-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Giger U, Brons A, Mizukami K, et al. (2015) Update on Fanconi Syndrome and Cystinuria.  40^th World Small Animal Veterinary Association Congress, May 15-18.  [https://www.vin.com/apputil/content/defaultadv1.aspx?id=7259145&pid=14365]

Farias F, Mhlanga-Mutangadura T, Taylor JF, et al. (2012) 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.