OMIA 001916-9615 : Familial adenomatous polyposis in Canis lupus familiaris

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 175100

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: Yoshizaki et al. (2020) reported that "all examined JRTs with GI polyps (n=21) harbored the identical heterozygous germline APC mutations, represented by a two-base pair substitution [c.[462_463delinsTT]]. The latter substitution was a nonsense mutation (p.K155X) resulting in a truncated APC protein, thus suggesting a strong association with this cancer-prone disorder."

Genetic testing: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant.

Breed: Jack Russell Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
APC adenomatous polyposis coli Canis lupus familiaris 3 NC_051807.1 (224101..93843) APC 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
Jack Russell Terrier Familial Adenomatous Polyposis APC delins, small (<=20) CanFam3.1 3 g.312131_312132delinsTT c.[462_463delinsTT] p.(K155X) NC_006585.3 c.[462_463delinsTT] 2020 32445578 Reference assembly and genomic location and cDNA reference ID kindly provided by Kyoko Yoshizaki, 17 Dec 2020

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.
2021 Yoshizaki, K., Hirata, A., Matsushita, H., Nishii, N., Kawabe, M., Mori, T., Sakai, H. :
PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res 17:32, 2021. Pubmed reference: 33461531. DOI: 10.1186/s12917-020-02731-7.
2020 Yoshizaki, K., Hirata, A., Nishii, N., Kawabe, M., Goto, M., Mori, T., Sakai, H. :
Familial Adenomatous Polyposis in Dogs: Hereditary Gastrointestinal Polyposis in Jack Russell Terriers with Germline APC Mutations. Carcinogenesis :, 2020. Pubmed reference: 32445578. DOI: 10.1093/carcin/bgaa045.

Edit History


  • Created by Frank Nicholas on 02 Jun 2020
  • Changed by Frank Nicholas on 22 Jan 2021