Identification of the identical human mutation in ACVR1 in 2 cats with fibrodysplasia ossificans progressiva

Casal, M. (author), Engiles, Julie B. (author), Zakošek, Maja (author), Berkowitz, Asaf (author), Porat-Mosenco, Yael (author), Mai, Wilfried (author), Wurzburg, Kirsten (author), Xu, Mei-Qi (author), Allen, Robyn (author), ODonnell, Patricia A. (author), Henthorn, Paula (author), Thompson, Keith (author), Shore, Eileen M. (author)

Two domestic shorthair cats, 1 intact female and 1 intact male, presented with progressive limb lameness and digital deformities at4 and 6 months of age. Stiffness and swelling of the distal thoracic and pelvic limb joints progressed to involve hip and shoulderjoints, 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 adjacentmusculotendinous tissues. All findings supported fibrodysplasia ossificans progressiva (FOP), a disorder characterized by toemalformations and progressive heterotopic ossification in humans. In both cats, molecular analyses revealed the same hetero-zygous mutation in the activin A receptor type I (ACVR1) gene that occurs in humans with FOP. Several reports of heterotopicossification in cats exist, but this is the first one to identify clinical FOP in 2 cats with the identical mutation that occurs in >95% ofhumans with FO

• Language: English
• Keywords: ankylosis, fibrodysplasia ossificans progressiva, ACVR1, bone diseases, bone morphogenic protein receptor, cats
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: VF - Veterinary Faculty
• Publication status: Published
• Publication version: Version of Record
• Publisher: American College of Veterinary Pathologists
• Year: 2019
• Number of pages: Str. 614-618
• Numbering: Vol. 56, No. 4
• PID: 20.500.12556/RUL-108959
• UDC: 636.8.09:616
• ISSN on article: 0300-9858
• DOI: 10.1177/0300985819835585
• COBISS.SI-ID: 4800122
• Publication date in RUL: 14.08.2019

Record is a part of a journal

• Title: Veterinary pathology
• Shortened title: Vet. Pathol.
• Publisher: American College of Veterinary Pathologists.
• ISSN: 0300-9858
• COBISS.SI-ID: 26599936

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 14.08.2019