Dystrophinopathies are the most common genetic neuromuscular disorders during childhood, with an X-linked recessive inheritance pattern. Because of clinical and genetic heterogeneity of dystrophinopathies, genetic testing of dystrophin gene at Xp21.2 is constantly evolving. Multiplex Polymerase Chain Reaction (MPCR) is used in the first line to detect common exon deletions of dystrophin gene (accounting for 65% of mutations), followed by the Multiplex Ligation-dependent Probe Amplification (MLPA) technique to reveal deletions of exons outside the usual hotspot and duplications in male and female carriers. (MLPA adds another 10-15% positive cases to MPCR). Recently, Next Generation Sequencing allows to screen for rare large and point mutations. We report here, molecular analysis results of dystrophin gene during 27 years in a large Moroccan cohort of 356 patients, using the multiplex polymerase chain reaction (MPCR) to screen for hot-spot exon deletions. First applications of whole dystrophin gene sequencing in our lab lead to the identification of six novel mutations.

中文翻译：

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摩洛哥营养不良症的分子诊断和六个新突变的报道。

营养不良是儿童期最常见的遗传性神经肌肉疾病，具有X连锁隐性遗传方式。由于营养不良症的临床和遗传异质性，Xp21.2处的肌营养不良蛋白基因的遗传检测在不断发展。在第一行中使用多重聚合酶链反应（MPCR）检测肌营养不良蛋白基因的常见外显子缺失（占突变的65％），然后使用多重连接依赖探针扩增（MLPA）技术揭示外显子的缺失。男性携带者和女性携带者通常的热点和重复之处。（MLPA在MPCR中又增加了10-15％的阳性病例）。最近，下一代测序允许筛选罕见的大和点突变。我们在这里报告 摩洛哥大型队列356名患者27年间肌营养不良蛋白基因的分子分析结果，使用多重聚合酶链反应（MPCR）筛选热点外显子缺失。整个肌营养不良蛋白基因测序在我们实验室中的首次应用导致了六个新突变的鉴定。