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

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

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

• Jezik: Angleški jezik
• Ključne besede: ankylosis, fibrodysplasia ossificans progressiva, ACVR1, bone diseases, bone morphogenic protein receptor, cats
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: VF - Veterinarska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Založnik: American College of Veterinary Pathologists
• Leto izida: 2019
• Št. strani: Str. 614-618
• Številčenje: Vol. 56, No. 4
• PID: 20.500.12556/RUL-108959
• UDK: 636.8.09:616
• ISSN pri članku: 0300-9858
• DOI: 10.1177/0300985819835585
• COBISS.SI-ID: 4800122
• Datum objave v RUL: 14.08.2019

Gradivo je del revije

• Naslov: Veterinary pathology
• Skrajšan naslov: Vet. Pathol.
• Založnik: American College of Veterinary Pathologists.
• ISSN: 0300-9858
• COBISS.SI-ID: 26599936

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 14.08.2019