Peer-reviewed veterinary case report
Cats with rare bone disease have same mutation as humans
By Casal, Margret L et al.·Published in Veterinary pathology·2019·1 Department of Clinical Sciences and Advanced Medicine, United States·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: Identification of the Identical Human Mutation inin 2 Cats With Fibrodysplasia Ossificans Progressiva.
- Species:
- cat
Plain-English summary
Two domestic shorthair cats, a 4-month-old female and a 6-month-old male, were brought to the vet due to worsening limping and unusual toe shapes. Their stiffness and swelling in the joints made it hard for them to move around. X-rays and scans showed abnormal bone growth in their joints, leading to a diagnosis of fibrodysplasia ossificans progressiva (FOP), a rare condition that causes bone to form in places it shouldn't. Genetic testing revealed both cats had the same mutation linked to FOP found in humans. This case highlights a unique connection between the cats and a human genetic disorder.
People also search for: cat limping · cat joint problems · fibrodysplasia ossificans progressiva in cats · cat toe deformities · cat genetic disorders
Abstract
Two domestic shorthair cats, 1 intact female and 1 intact male, presented with progressive limb lameness and digital deformities at 4 and 6 months of age. Stiffness and swelling of the distal thoracic and pelvic limb joints progressed to involve hip and shoulder joints, resulting in reduced mobility. Radiographs in both cats and computed tomography of the male cat revealed ankylosing, polyarticular deposits of extracortical heterotopic bone spanning multiple axial and appendicular joints, extending into adjacent musculotendinous tissues. All findings supported fibrodysplasia ossificans progressiva (FOP), a disorder characterized by toe malformations and progressive heterotopic ossification in humans. In both cats, molecular analyses revealed the same heterozygous mutation in the activin A receptor type I () gene that occurs in humans with FOP. Several reports of heterotopic ossification in cats exist, but this is the first one to identify clinical FOP in 2 cats with the identical mutation that occurs in >95% of humans with FOP.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31007133/