一个以心脏损害为首发症状的杜氏肌营养不良症家系的遗传学及临床研究

doi:10.3969/j.issn.1000-8535.2020.03.008

广州医药 ›› 2020, Vol. 51 ›› Issue (3): 36-41.DOI: 10.3969/j.issn.1000-8535.2020.03.008

一个以心脏损害为首发症状的杜氏肌营养不良症家系的遗传学及临床研究

张惠丽, 成秋生, 陈希, 李泽

广州市第一人民医院,华南理工大学附属第二医院神经科(广州 510180)

收稿日期:2020-01-07 出版日期:2020-05-20 发布日期:2021-11-28
通讯作者: 李泽,E-mail:lize20180312@163.com
基金资助:
广东省自然科学基金管理委员会(2017A030310619)

Genetic and clinical study on a family of Duchenne muscular dystrophy with cardiac impairment as the first symptom

ZHANG Huili, CHENG Qiusheng, CHEN Xi, LI Ze

Department of Neurology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou 510180, China

Received:2020-01-07 Online:2020-05-20 Published:2021-11-28

摘要/Abstract

摘要： 目的总结一个以心脏损害为首发症状的假肥大肌营养不良症家系的遗传学及临床特征。方法对先证者和家系成员进行临床观察、并收集其血清酶、胸片、心电图、心脏彩色超声、肌肉组织活检及抗肌萎缩蛋白基因突变检测等结果。结果先证者及家系成员患者符合假肥大肌营养不良症诊断,但以心脏扩大为首发症状,表现为心肌酶谱异常,心电图异常,心彩超提示扩张型心肌病,同时骨骼肌受累不明显,基因检测提示先证者及家系成员患者携带抗肌萎缩蛋白基因外显子40的无义突变[c.5632C>T, p(Gln1878^*)]。结论该家系成员患者符合X连锁扩张型心肌病诊断,患者存在新发的抗肌萎缩蛋白基因无义突变。

关键词: 假肥大肌营养不良症, 心脏损害, 抗肌萎缩蛋白基因, 新发无义突变

Abstract: Objective To summarize the genetic and clinical characteristics of a family with Duchenne muscular dystrophy (DMD) with cardiac damage as the first symptom. Methods The results of clinical observations, laboratory tests, chest radiographs, electromyography, echocardiography, muscle tissue biopsies, and DMD gene mutations were collected. Results Patients with probands and family members met the diagnosis of DMD. However, cardiac enlargement was the first symptom, presenting as abnormal myocardial enzyme spectrum, abnormal electrocardiogram, and dilated cardiomyopathy in echocardiography, while skeletal muscle involvement was not obvious. One nonsense pathogenic mutation c.5632C>T, p(Gln1878^*) of exon 40 in the DMD gene was identified in the patients with probands and family members. Conclusion The patients of this family met the diagnosis of x-linked dilated cardiomyopathy, and a new nonsense pathogenic mutation of DMD gene was identified in this family.

Key words: Duchenne muscular dystrophy, Cardiac damage, DMD gene, Novel nonsense mutation

张惠丽, 成秋生, 陈希, 李泽. 一个以心脏损害为首发症状的杜氏肌营养不良症家系的遗传学及临床研究[J]. 广州医药, 2020, 51(3): 36-41.

ZHANG Huili, CHENG Qiusheng, CHEN Xi, LI Ze. Genetic and clinical study on a family of Duchenne muscular dystrophy with cardiac impairment as the first symptom[J]. Guangzhou Medical Journal, 2020, 51(3): 36-41.

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一个以心脏损害为首发症状的杜氏肌营养不良症家系的遗传学及临床研究

Genetic and clinical study on a family of Duchenne muscular dystrophy with cardiac impairment as the first symptom

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