Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.
Department of Gastroenterology, The Second Xiangya Hospital, Central South University, Changsha, China.
Brain Behav. 2019 Jan;9(1):e01167. doi: 10.1002/brb3.1167. Epub 2018 Dec 3.
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary myopathy characterized as triad of muscular dystrophy, joint contractures, and conduction cardiomyopathy. In this study, we diagnosed a X-linked recessive EDMD patient with severe conduction cardiomyopathy while noteless muscular and joint disorders.
A Chinese cardiomyopathy family spanning four generations was enrolled in the study. Targeted next-generation sequencing (NGS) was performed to identify the underlying mutation in the proband and validated by Sanger sequencing. Segregation analysis was applied to all 13 participants.
A novel frameshift mutation (c.253_254insT, p.Y85Lfs*8) of emerin gene (EMD) was found and co-segregated with family members. Other than the typical manifestations of X-linked EDMD, this patient presented inconspicuous muscular disorders which were later diagnosed after the mutation been identified.
This study enriches the EMD gene mutation database and reminds us of the possibility of EDMD while encountering patients with severe heart rhythm defects or dilated cardiomyopathy of unknown etiology, even if they have neither obvious skeletal muscle disorder nor joint involvement.
先天性肌营养不良症（EDMD）是一种遗传性肌病，其特征为肌病、关节挛缩和传导性心肌病三联征。在本研究中，我们诊断了一名 X 连锁隐性 EDMD 患者，该患者有严重的传导性心肌病，而肌肉和关节疾病不明显。
本研究纳入了一个跨越四代的中国心肌病家系。对先证者进行靶向下一代测序（NGS），并通过 Sanger 测序进行验证。对所有 13 名参与者进行分离分析。
发现一个新的移码突变（c.253_254insT，p.Y85Lfs*8）emerin 基因（EMD），与家系成员共分离。除了 X 连锁 EDMD 的典型表现外，该患者还表现出不明显的肌肉疾病，在确定突变后才被诊断出来。
本研究丰富了 EMD 基因突变数据库，并提醒我们，在遇到严重心律失常或不明原因扩张型心肌病的患者时，即使他们没有明显的骨骼肌疾病或关节受累，也应考虑 EDMD 的可能性。
