Passos-Bueno M R, Vainzof M, Marie S K, Zatz M
Departamento de Biologia, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Hum Mol Genet. 1994 Jun;3(6):919-22. doi: 10.1093/hmg/3.6.919.
The largest in-frame deletion in the dystrophin gene previously reported in a BMD patient encompasses exons 17 to 48, which corresponds to 46% of the coding region. Here we report a larger deletion of exons 13 to 48 in a 37 year-old BMD patient with a mild phenotype. Such deletion, which corresponds to 50% of the coding region is the largest reported so far associated with a benign clinical course. Dystrophin assessment (through immunofluorescence and Western blot) using antibodies against different regions of the dystrophin was concordant with his deletion. The observation of this patient has important implication for gene therapy trials based on minigenes, since it confirms that deletions of up to 66% of the rod domain are compatible with a mild phenotype.
先前报道的一名贝克型肌营养不良（BMD）患者中，肌营养不良蛋白基因最大的框内缺失涵盖外显子17至48，这相当于编码区的46%。在此，我们报告一名37岁的BMD患者，其具有轻度表型，外显子13至48发生了更大的缺失。这种缺失相当于编码区的50%，是迄今为止报道的与良性临床病程相关的最大缺失。使用针对肌营养不良蛋白不同区域的抗体进行的肌营养不良蛋白评估（通过免疫荧光和蛋白质印迹法）与他的缺失情况相符。该患者的观察结果对基于小基因的基因治疗试验具有重要意义，因为它证实了杆状结构域高达66%的缺失与轻度表型是相容的。
