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A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog
Animal Genetics ( IF 2.4 ) Pub Date : 2021-08-09 , DOI: 10.1111/age.13130
M E Turba 1 , P C Ostan 2 , S Ghetti 3 , M Dajbychova 4 , F Dondi 3 , F Gentilini 3
Affiliation  

Ligneous membranitis/conjunctivitis (LM, OMIM 217090) is a hereditary disorder caused by a congenital plasminogen (PLG) deficiency. In veterinary medicine, LM (OMIA 002020-9615) has rarely been reported in Golden Retrievers, Yorkshire Terriers, Doberman Pinschers and Scottish Terriers. In the latter breed, an A>T variation in an intron donor site of the PLG gene (PLG, c.1256+2T>A) has been found to be the sole causative molecular defect reported to date in dogs. Owing to the absence of plasmin enzymatic clearance which in turn depends on the lack of its proenzyme plasminogen, fibrin deposits tend to accumulate in viscous membranes on the eyes, triggering and sustaining an intense inflammatory response. A case of LM was diagnosed in a 7-month-old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood-like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1. This study provides a spontaneous animal model for LM associated with complete plasminogen deficiency and provides a method for detecting affected or carrier dogs.

中文翻译:

纤溶酶原基因的大量缺失与马耳他犬的木质膜炎有关

木质膜炎/结膜炎 (LM, OMIM 217090) 是一种由先天性纤溶酶原 (PLG) 缺乏症引起的遗传性疾病。在兽医学中,LM (OMIA 002020-9615) 在金毛猎犬、约克夏犬、杜宾犬和苏格兰梗犬中的报道很少。在后一个品种中,PLG的内含子供体位点的 A>T 变异已发现基因(PLG,c.1256+2T>A)是迄今为止报道的狗中唯一的致病分子缺陷。由于缺乏纤溶酶酶促清除,而纤溶酶原的缺乏又依赖于纤溶酶原的缺乏,纤维蛋白沉积物往往会积聚在眼睛的黏膜中,从而引发和维持强烈的炎症反应。一只 7 个月大的雄性马耳他犬被诊断出 LM 病例。检查狗是否有严重的复发性结膜炎。眼科医生在彻底的眼科检查后做出了木质结膜炎的诊断,并通过完全缺乏血浆纤溶酶原活性而得到证实。主要的局部症状是结膜发红,眼睛上有持久的膜,有木质(木样)膜。
更新日期:2021-09-06
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