OMIA 001897-9796 : Hoof wall separation syndrome in Equus caballus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Species-specific name: Also known as Hoof Wall Separation Disease

Species-specific symbol: HWSD

Mapping: By conducting a GWAS on 15 affected and 17 non-affected Connemara ponies, each genotyped with the Illumina SNP70 Genotyping Beadchip (yielding 51,453 informative SNPs), Finno et al. (2015) mapped this disorder to a 1.7Mb region on horse chromosome ECA8: 79,936,024–81,676,900 bp; UCSC assembly equCab2

Molecular basis: Frameshift insertion: c.504_505insC; chr8:80111598; UCSC assembly equCab2 (Finno et al., 2015)

Clinical features: "separation of the dorsal hoof wall along the weight-bearing surface of the hoof during the first year of life" (Finno et al., 2015)

Breed: Connemara pony.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 Equus caballus 8 NC_009151.3 (83582594..83604783) SERPINB11 Homologene, Ensembl, NCBI gene

Variants

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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
Connemara pony Hoof wall separation syndrome SERPINB11 insertion, small (<=20) EquCab2 8 g.80111598_80111599insC c.504_505insC 2015 25875171

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.
2015 Finno, C.J., Stevens, C., Young, A., Affolter, V., Joshi, N.A., Ramsay, S., Bannasch, D.L. :
SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies. PLoS Genet 11:e1005122, 2015. Pubmed reference: 25875171. DOI: 10.1371/journal.pgen.1005122.
2013 Bannasch, D.L., Finno, C.J., Stevens, C., Young, A. , Ramsey, S. :
A successful genome wide association for Connemara Hoof Wall Separation Syndrome using the Equine Illumina 74K Beadchip. 10th Dorothy Russell Havemeyr Foundation International Equine Genome Mapping Workshop, Azores, Portugal. :Abstract p. 132, 2013.

Edit History


  • Created by Carrie Finno on 11 Dec 2013
  • Changed by Carrie Finno on 11 Dec 2013
  • Changed by Carrie Finno on 26 Nov 2014
  • Changed by Frank Nicholas on 21 Apr 2015