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X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
Genes ( IF 3.5 ) Pub Date : 2020-10-08 , DOI: 10.3390/genes11101175
Barbara Brunetti 1 , Luisa V Muscatello 1 , Anna Letko 2 , Valentina Papa 3 , Giovanna Cenacchi 3 , Marco Grillini 4 , Leonardo Murgiano 2, 5 , Vidhya Jagannathan 2 , Cord Drögemüller 2
Affiliation  

A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The histology confirmed the marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers. Immunohistochemistry demonstrated the absence of dystrophin confirming the diagnosis. Transmission electron microscopy showed disarrangement of skeletal muscle fibers. Finally, whole-genome sequencing identified a ~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene. This pathogenic loss-of-function variant most likely explains the observed disease phenotype. The X-chromosomal variant was absent in seven controls of the same breed. Most likely, this partial deletion of the DMD gene was either transmitted on the maternal path within the family of the affected dog or arose de novo. This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin.

中文翻译:

杰克罗素梗的 X 连锁杜氏型肌营养不良症与犬 DMD 基因的部分缺失有关

一只 9 个月大的雄性杰克罗素梗在散步后开始出现后肢瘫痪。住院后,这只狗心脏骤停,后来死亡。尸检显示膈肌、食道和舌根严重变厚,诊断为肌营养不良症。组织学证实了骨骼肌纤维的显着大小变化、再生和纤维化替代。免疫组织化学证实没有肌营养不良蛋白,证实了诊断。透射电子显微镜显示骨骼肌纤维排列紊乱。最后,全基因组测序确定了跨越犬肌营养不良蛋白 (DMD) 基因的 19 个外显子的约 368kb 缺失。这种致病性功能丧失变异很可能解释了观察到的疾病表型。同一品种的七个对照中不存在 X 染色体变异。最有可能的是,这种 DMD 基因的部分缺失要么是在受影响狗的家庭中通过母系途径传播的,要么是从头出现的。这项研究揭示了杰克罗素梗的 DMD 基因自发部分缺失,显示出由于非功能性肌营养不良蛋白导致的杜氏型肌营养不良症。
更新日期:2020-10-08
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