Jenkins Christopher A, Forman Oliver P
Kennel Club Genetics Centre, Animal Health Trust, Kentford, Newmarket, Suffolk CB8 7UU UK.
Canine Genet Epidemiol. 2015 May 14;2:7. doi: 10.1186/s40575-015-0019-4. eCollection 2015.
A Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry.
Exon resequencing of the canine Duchenne Muscular Dystrophy (DMD) gene was undertaken to screen for potential disease causing mutations. The sequence data generated from all coding DMD exons revealed a 1 bp deletion in exon 22, causing a frameshift and premature termination of the coding sequence. Gene expression analysis indicated reduced levels of dystrophin transcript in the DD-MD case and western blot confirmed the absence of full length protein.
The finding represents a novel mutation causing DD-MD in the dog.
一只诺福克梗犬因疑似肌营养不良蛋白缺乏性肌营养不良症（DD-MD）被转诊至动物健康信托基金神经科，经临床检查和免疫组织化学确诊。
对犬杜氏肌营养不良症（DMD）基因进行外显子重测序，以筛查潜在的致病突变。所有编码DMD外显子产生的序列数据显示，外显子22中有1个碱基对缺失，导致编码序列移码和提前终止。基因表达分析表明，DD-MD病例中肌营养不良蛋白转录本水平降低，蛋白质印迹法证实不存在全长蛋白。
该发现代表了一种导致犬DD-MD的新突变。
