OMIA 001841-9796 : Distichiasis in Equus caballus
In other species: dog , cattle Possibly relevant human trait(s) and/or gene(s) (MIM number): 126300 Mendelian trait/disorder: unknown Considered a defect: yes Cross-species summary: Two rows of eyelashes Molecular basis: Hisey et al. (2020) conducted a genome wide association study, mapped distichiasis to ECA13 and "identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. .... The identified 16 kb deletion (ECA13:g.178714_195130del) was also not perfectly concordant with disease but was the most concordant with disease phenotype. ... Eighteen out of 19 cases were homozygous for the 16 kb deletion; however, seven out of 75 controls were also homozygous for the deletion. ... A single horse with distichia was not homozygous for the ROH identified as a part of the GWAS analysis and was heterozygous for the deletion." Clinical features: Hisey et al. (2020): "These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye." Breed: Friesian.
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.
|2020||Hisey, E.A., Hermans, H., Lounsberry, Z.T., Avila, F., Grahn, R.A., Knickelbein, K.E., Duward-Akhurst, S.A., McCue, M.E., Kalbfleisch, T.S., Lassaline, M.E., Back, W., Bellone, R.R. :|
|Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses. BMC Genomics 21:848, 2020. Pubmed reference: 33256610. DOI: 10.1186/s12864-020-07265-8.|
|2014||Hermans, H., Ensink, J.M. :|
|Treatment and long-term follow-up of distichiasis, with special reference to the Friesian horse: a case series. Equine Vet J 46:458-62, 2014. Pubmed reference: 23927412. DOI: 10.1111/evj.12157.|
- Created by Imke Tammen2 on 08 Dec 2020
- Changed by Imke Tammen2 on 08 Dec 2020