Literature DB >> 36172455

Hoof wall separation disease: A Review.

Carrie J Finno1.   

Abstract

Hoof wall separation disease (HWSD) is a genetic defect in Connemara ponies characterised by separation and cracking of the dorsal hoof wall. The disease can result in chronic inflammation, severe lameness and laminitis. Affected ponies typically show clinical signs within the first six months of life. The disease is inherited as an autosomal recessive trait. The genetic mutation is a frameshift mutation in the gene SERPINB11, (c.504_505insC). Carriers are completely normal, only ponies that are homozygous for the mutation will have clinical signs of the disease. Within the Connemara breed, carrier frequency has been estimated at 14.8% and the mutation has not been identified in other breeds at this time. While there is no definitive cure for HWSD, management through targeted hoof care and the use of special shoes may be beneficial. Additionally, environmental management may lessen the severity of clinical disease in affected ponies. Genetic testing of Connemara ponies is required for all new registrations. This review of Hoof wall separation disease (HWSD) in Connemara ponies describes the clinical presentation, histopathologic findings, genetic discovery and resulting DNA test and management considerations for affected ponies.

Entities:  

Keywords:  Connemara; genetics; horse; laminitis; recessive

Year:  2021        PMID: 36172455      PMCID: PMC9512258          DOI: 10.1111/eve.13530

Source DB:  PubMed          Journal:  Equine Vet Educ        ISSN: 0957-7734            Impact factor:   1.127


  2 in total

Review 1.  Identical mutations and phenotypic variation.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1997-09       Impact factor: 4.132

2.  SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.

Authors:  Carrie J Finno; Carlynn Stevens; Amy Young; Verena Affolter; Nikhil A Joshi; Sheila Ramsay; Danika L Bannasch
Journal:  PLoS Genet       Date:  2015-04-13       Impact factor: 5.917

  2 in total

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