Abstract：
Dental-skeletal-retinal-anomaly (DSRA) is a newly described collagenopathy in Cane Corso dogs. The causative mutation has been linked with splice defects within the melanoma inhibitory activity member 3 (MIA/3) gene that codes for the TANGO1 protein. This case series presents the first dental-related radiographic and histopathological abnormalities in two dogs with genetically confirmed DSRA. The clinical, radiological, and histological features are similar to those reported for MIA3/TANGO1 splice defects previously reported in humans and knockout mice. Common clinical features of these patients include generalized opalescent discoloration of the permanent dentition (intrinsic dyschromia), enamel defects, fractured teeth, vision loss, shortened physical stature, and orthopedic abnormalities that resulted in chronic, early-onset lameness. Intraoral radiography revealed delayed dentin deposition, evidence of endodontic disease, and dental hard tissue loss in both cases. Histopathologic findings for both cases were consistent with dentinogenesis imperfecta (DGI). DSRA exhibits autosomal recessive heritability and commercial diagnostic tests are now available. Clinicians should be aware of the etiopathogenesis, genetic inheritance and associated comorbidities in order to treat and counsel clients on the management of this condition. It is recommended that all breeding individuals be tested, and carriers be sterilized or omitted from the breeding population. This case study describes intraoral diagnoses, treatments, and follow-up of two DSRA-positive dogs.
摘要：
牙齿-骨骼-视网膜异常（DSRA）是甘蔗Corso犬中新近描述的胶原病。致病突变与编码TANGO1蛋白的黑素瘤抑制活性成员3（MIA/3）基因内的剪接缺陷有关。此病例系列介绍了两只经遗传证实的DSRA狗的首次与牙齿相关的放射学和组织病理学异常。临床，放射学,组织学特征与先前在人类和基因敲除小鼠中报道的MIA3/TANGO1剪接缺陷相似。这些患者的常见临床特征包括永久性牙列的泛化乳白色变色（内在色素异常），牙釉质缺陷,牙齿骨折,视力丧失,缩短的身体身材，和骨科异常导致慢性，早发性跛行。口腔造影显示牙本质沉积延迟，牙髓病的证据,和牙齿硬组织损失在这两种情况下。两种情况的组织病理学发现均与牙本质发育不全（DGI）一致。DSRA表现出常染色体隐性遗传，现在可以进行商业诊断测试。临床医生应该意识到病因，遗传遗传和相关的合并症，以便治疗和咨询客户对这种情况的管理。建议对所有繁殖个体进行测试，和携带者被灭菌或从繁殖种群中省略。这个案例研究描述了口内诊断，治疗,并对两只DSRA阳性犬进行随访。
