INTRODUCTION Emery-Dreifuss muscular dystrophy (EDMD) also known as humeroperoneal muscular dystrophy, is a skeletal myopathy characterized by the clinical triad of progressive muscular weakness, joint contractures, and cardiac disease. METHODOLOGY Herein, we reported a family including two patients (the proband and his son) affected with progressive muscular dystrophy manifested by joint contractures without cardiac involvement ("EDMD-like" phenotype). Interestingly, electodiagnostic study results of the proband showed a neuropathic pattern different from the myopathic pattern in most muscular dystrophy patients. To identify the underlying genetic cause, genomic DNA of the proband was analyzed by WES using Agilent's SureSelect XT Human All Exon v5. RESULTS A novel de novo pathogenic heterozygous missense mutation (NM_182914.2: c.4858G > A; p.Ala1620Thr) of the SYNE2 gene, which had not been previously reported was identified by whole exome sequencing in the proband and by Sanger sequencing in his son. CONCLUSION To the best knowledge, SYNE2 mutation was reported first by whole exome sequencing in a Korean family with EDMD-like features. We emphasized the role of genetic analysis using whole exome sequencing, which allows the correct recognition of this molecular diagnosis and brings together the neuromuscular spectrum of this complex clinical scenario, leading to proper clinical management.

中文翻译：

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通过全外显子组测序鉴定的一个新的SYNE2突变，在一个韩国家庭中患有Emery-Dreifuss肌肉营养不良。

简介Emery-Dreifuss肌营养不良症（EDMD）也称为肱骨腹肌营养不良症，是一种骨骼肌病，其特征是临床上进行性肌无力，关节挛缩和心脏病的三联征。方法学在这里，我们报道了一个家庭，其中包括两名患者（先证者和他的儿子），他们患有进行性肌营养不良症，表现为无心脏受累的关节挛缩（“ EDMD样”表型）。有趣的是，先证者的电诊断研究结果显示，在大多数肌肉营养不良患者中，神经病变的模式不同于肌肉病变的模式。为了确定潜在的遗传原因，使用安捷伦的SureSelect XT Human All Exon v5通过WES分析了先证者的基因组DNA。结果一个新的从头致病性杂合错义突变（NM_182914.2：c。4858G> A; SYNE2基因的p.Ala1620Thr）（以前未报道）通过先证者的全外显子组测序和他儿子的Sanger测序鉴定。结论据了解，在一个具有EDMD样特征的韩国家庭中，全基因组测序首次报道了SYNE2突变。我们强调了使用全外显子组测序进行遗传分析的作用，它可以正确识别这种分子诊断，并将这种复杂临床情况的神经肌肉光谱汇集在一起​​，从而实现适当的临床管理。SYNE2突变首先在具有EDMD样特征的韩国家庭中通过全外显子组测序报道。我们强调了使用全外显子组测序进行遗传分析的作用，它可以正确识别这种分子诊断，并将这种复杂临床情况的神经肌肉光谱汇集在一起​​，从而实现适当的临床管理。SYNE2突变首先在具有EDMD样特征的韩国家庭中通过全外显子组测序报道。我们强调了使用全外显子组测序进行遗传分析的作用，它可以正确识别这种分子诊断，并将这种复杂临床情况的神经肌肉光谱汇集在一起​​，从而实现适当的临床管理。