OMIA 000388-9685 : Fibrodysplasia ossificans in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 135100

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Cross-species summary: Casal et al. (2019): "also called progressive ossifying myositis and myositis ossificans"

Molecular basis: Applying a comparative candidate gene approach to two affected domestic shorthair cats, Casal et al. (2019) "revealed the same heterozygous mutation in the activin A receptor type I (ACVR1) gene [c.617G>A; p.R206H] that occurs in humans with FOP [fibrodysplasia ossificans progressiva]" (see OMIM hyperlink at the top of this page)

Clinical features: Casal et al. (2019): "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."

Breeds: Domestic Shorthair, Himalayan, Maine Coon.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ACVR1 activin A receptor, type I Felis catus C1 NC_018730.3 (150111868..149971028) ACVR1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
Domestic Shorthair Fibrodysplasia ossificans progressiva ACVR1 missense Felis_catus_9.0 C1 c.617G>A p.R206H Casal et al. (2019): NC_018730.3. 2019 31007133

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.
2019 Casal, M.L., Engiles, J.B., Zakošek Pipan, M., Berkowitz, A., Porat-Mosenco, Y., Mai, W., Wurzburg, K., Xu, M.Q., Allen, R., ODonnell, P.A., Henthorn, P.S., Thompson, K., Shore, E.M. :
Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva. Vet Pathol :300985819835585, 2019. Pubmed reference: 31007133. DOI: 10.1177/0300985819835585.
2013 Klang, A., Kneissl, S., Glänzel, R., Fuchs-Baumgartinger, A. :
Imaging diagnosis: fibrodysplasia ossificans progressiva in a cat. Vet Radiol Ultrasound 54:532-5, 2013. Pubmed reference: 23578335. DOI: 10.1111/vru.12040.
2009 Yabuzoe, A., Yokoi, S., Sekiguchi, M., Momoi, Y., Ide, K., Nishifuji, K., Iwasaki, T. :
Fibrodysplasia ossificans progressiva in a Maine Coon cat with prominent ossification in dorsal muscle. J Vet Med Sci 71:1649-52, 2009. Pubmed reference: 20046034.
2006 Asano, K., Sakata, A., Shibuya, H., Kitagawa, M., Teshima, K., Kato, Y., Sasaki, Y., Kutara, K., Seki, M., Edamura, K., Sato, T., Tanaka, S. :
Fibrodysplasia ossificans progressiva-like condition in a cat. J Vet Med Sci 68:1003-6, 2006. Pubmed reference: 17019075.
1996 Valentine, B.A., Kaplan, F.S. :
Fibrodysplasia ossificans progressiva in cats - a potentially important animal model of the human disease (reprinted from feline health topics for veterinarians, vol 9, pg 4, 1994) Feline Practice 24:6, 1996.
1992 Bradley, W.A. :
Fibrodysplasia Ossificans in a Himalayan Cat Australian Veterinary Practitioner 22:154-158, 1992.
Valentine, BA., George, C., Randolph, JF., Center, SA., Fuhrer, L., Beck, KA. :
Fibrodysplasia ossificans progressiva in the cat. A case report. J Vet Intern Med 6:335-40, 1992. Pubmed reference: 1484375.
1984 Warren, HB., Carpenter, JL. :
Fibrodysplasia ossificans in three cats. Vet Pathol 21:495-9, 1984. Pubmed reference: 6485209.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 25 Apr 2019