Saat Hanife, Sahin Ibrahim
Department of Medical Genetics, University of Health Sciences, Dışkapı Yıldırım Beyazıt Research and Training Hospital, Ankara, Turkey.
Ann Hum Genet. 2021 Sep;85(5):178-185. doi: 10.1111/ahg.12429. Epub 2021 May 8.
Hereditary myopathies are a heterogeneous disorder known to be associated with more than 100 genes. Although hereditary myopathy subgroups can be partially described with traditional methods such as muscle biopsy, next-generation sequencing (NGS) is essential to reveal the disease's underlying genetic etiology and molecular mechanisms. In this study, we performed clinical exome sequencing or whole-exome sequencing (CES/WES) in 20 unrelated Turkish patients. Thirteen pathogenic or likely pathogenic variants, including five novel variantswere detected in the 16 known hereditary myopathy genes. We achieved a high rate of diagnosis (65%) compared to previous studies. The most common condition noticed was limb-girdle muscular dystrophy (LGMD), which should not be ignored in patients diagnosed with myopathy. CES or WES provides a certain molecular diagnosis from a broad perspective to demonstrate underlying genetic causes in heterogeneous disorders. Therefore, exome sequencing offers a higher and more complete diagnosis than the gene panel.
遗传性肌病是一种异质性疾病，已知与100多个基因相关。尽管遗传性肌病亚组可以通过肌肉活检等传统方法进行部分描述，但下一代测序（NGS）对于揭示该疾病潜在的遗传病因和分子机制至关重要。在本研究中，我们对20名无亲缘关系的土耳其患者进行了临床外显子组测序或全外显子组测序（CES/WES）。在16个已知的遗传性肌病基因中检测到13个致病或可能致病的变异，包括5个新变异。与之前的研究相比，我们获得了较高的诊断率（65%）。最常见的疾病是肢带型肌营养不良症（LGMD），在诊断为肌病的患者中不应被忽视。CES或WES从广泛的角度提供了一定的分子诊断，以证明异质性疾病的潜在遗传原因。因此，外显子组测序比基因检测提供了更高、更完整的诊断。
