Peer-reviewed veterinary case report
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations.
- Journal:
- Veterinary pathology
- Year:
- 2018
- Authors:
- Molín, Jéssica et al.
- Affiliation:
- 1 Department of Animal Pathology · Spain
- Species:
- horse
Plain-English summary
A 1-month-old Purebred Spanish Horse foal developed serious liver problems that led to its death. The foal had a condition called congenital hepatic fibrosis, which means its liver was abnormally fibrous from birth. Genetic tests showed that the foal had some known mutations in a gene called PKHD1, which is linked to this liver condition, as well as two new mutations that had not been seen before. In a study of healthy Purebred Spanish Horses, researchers found that certain genetic variations were much more common than in another breed known to have similar liver issues. This suggests that the genetic causes of liver problems in this breed might be different from those in the other breed.
Abstract
A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to CHF in Swiss Franches-Montagnes (SFM) horses. In addition, 2 novel mutations were detected, the foal being homozygous for one of them and heterozygous for the other. Genetic studies in a healthy PSH population ( n = 35) showed a 3-fold higher genotypic frequency for PKHD1 SNP g.49,630,834G>A and a 5-fold higher genotypic frequency for PKHD1 SNP g.49,597,760A>T compared with those reported for SFM horses. SNPs in the PKHD1 gene in CHF-affected SFM horses might not fully explain the CHF observed in the PSH. Other mutations in the PKHD1 gene could play a more important role in the PSH.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/29402207/