Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 107000 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Species-specific name: Symmetrical onychomadesis or symmetrical lupoid onychodystrophy (SLO)

Mapping: A GWAS conducted by Dahlgren et al. (2012) "in 225 Gordon Setters identified a single region associated with symmetrical onychomadesis on chromosome 12 (spanning about 3.3 mb)."

A GWAS in Border Collies by Gershony et al. (2019) highlighted two regions on CFA12 and one region on CFA17.

Gershony et al. (2021) "Case-control association was employed on whole genome sequencing data to uncover putative causative variants in SLO within the CFA12 and CFA17 associated regions. ... Although no SLO-associated protein-coding variants were identified on CFA17, multiple variants, many with predicted damaging effects, were identified within potential candidate genes on CFA12. Furthermore, many potentially damaging alleles were fully correlated with the presence of DLA class II risk haplotypes for SLO, suggesting that the variants may reflect DLA class II haplotype association with disease or vice versa. ... all were predictive of risk for SLO and, with judicious assessment, their application in selective breeding may prove useful to reduce the incidence of SLO in the breed."

Breeds: Border Collie, Gordon Setter.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below