Casal Margret L, Engiles Julie B, Zakošek Pipan Maja, Berkowitz Asaf, Porat-Mosenco Yael, Mai Wilfried, Wurzburg Kirsten, Xu Mei-Qi, Allen Robyn, ODonnell Patricia A, Henthorn Paula S, Thompson Keith, Shore Eileen M
1 Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, PA, USA.
2 Department of Clinical Sciences and Pathobiology, School of Veterinary Medicine, University of Pennsylvania, PA, USA.
Vet Pathol. 2019 Jul;56(4):614-618. doi: 10.1177/0300985819835585. Epub 2019 Apr 22.
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.
两只家猫，1只未绝育雌性和1只未绝育雄性，分别在4个月和6个月大时出现进行性肢体跛行和趾部畸形。胸远端和骨盆肢体关节的僵硬和肿胀逐渐发展至累及髋关节和肩关节，导致活动能力下降。两只猫的X线片以及雄性猫的计算机断层扫描显示，跨多个轴关节和附肢关节的皮质外异位骨有强直性、多关节沉积，并延伸至相邻的肌腱组织。所有结果均支持进行性骨化性纤维发育不良（FOP），这是一种在人类中以趾部畸形和进行性异位骨化为特征的疾病。在两只猫中，分子分析均显示在I型激活素A受体（ ）基因中存在与患有FOP的人类相同的杂合突变。已有数篇关于猫异位骨化的报道，但这是首次在两只猫中鉴定出临床FOP，且其具有在超过95%的患有FOP的人类中出现的相同突变。
