Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 256300 (trait)

Mendelian trait/disorder: unknown

Disease-related: 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 (Dog) (VBO_0201260).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).