OMIA 001326-9615 : Protein-losing nephropathy in Canis lupus familiaris
Possibly relevant human trait(s) and/or gene(s) (MIM number): 256300 Mendelian trait/disorder: unknown Considered a defect: yes Species-specific symbol: PLN Markers: Littman et al. (2013) conducted a GWAS with >123,000 SNPs genotyped on 42 affected soft-coated wheaten terrier dogs and 20 control dogs from the same breed, which identified a 320.8Kb candidate region on chromosome CFA1. Sequencing of candidate genes in this region revealed two missense mutations: "a glycine to arginine in the fibronectin type 3 domain of nephrin [NPHS1] and a proline to arginine in a conserved proline-rich region in Neph3 KIRREL2". The authors concluded that "Dogs homozygous for the PLN-predisposing haplotype, and thus for the amino acid substitutions in NPHS1 and KIRREL2 found in this haplotype, are at very high increased risk of developing PLN compared to dogs that are not homozygous, or are homozygous for the “normal” haplotype or alleles". Whether one or both of these mutants is causative is still to be determined. Breed: Soft Coated Wheaten Terrier.
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.
|2013||Lennon, E.M., Hanel, R.M., Walker, J.M., Vaden, S.L. :|
|Hypercoagulability in dogs with protein-losing nephropathy as assessed by thromboelastography. J Vet Intern Med 27:462-8, 2013. Pubmed reference: 23528002. DOI: 10.1111/jvim.12067.|
|Littman, M.P., Wiley, C.A., Raducha, M.G., Henthorn, P.S. :|
|Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs. Mamm Genome 24:119-26, 2013. Pubmed reference: 23325127. DOI: 10.1007/s00335-012-9445-8.|
|Vaden, S.L., Littman, M.P., Cianciolo, R.E. :|
|Familial renal disease in soft-coated wheaten terriers. J Vet Emerg Crit Care (San Antonio) 23:174-83, 2013. Pubmed reference: 23461660. DOI: 10.1111/vec.12027.|
|2000||Littman, M.P., Dambach, D.M., Vaden, S.L., Giger, U. :|
|Familial protein-losing enteropathy and protein-losing nephropathy in Soft Coated Wheaten Terriers: 222 cases (1983-1997) Journal of Veterinary Internal Medicine 14:68-80, 2000. Pubmed reference: 10668820.|
|Vaden, S.L., Hammerberg, B., Davenport, D.J., Orton, S.M., Trogdon, M.M., Melgarejo, L.T., VanCamp, S.D., Williams, D.A. :|
|Food hypersensitivity reactions in Soft Coated Wheaten Terriers with protein-losing enteropathy or protein-losing nephropathy or both: Gastroscopic food sensitivity testing, dietary provocation, and fecal immunoglobulin E Journal of Veterinary Internal Medicine 14:60-67, 2000. Pubmed reference: 10668819.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 06 Feb 2013