Yuan Jun-hui, Hu Jing, Zhao Zhe, Shen Hong-rui, Li Na, Bing Qi
Neuromuscular Laboratory, Department of Neuromuscular Disease, the Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):136-9. doi: 10.3760/cma.j.issn.1003-9406.2010.02.004.
To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).
Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation.
The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C to G)(T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype.
This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
研究一个常染色体显性遗传的埃默里 - 德赖富斯肌营养不良症（AD - EDMD）家系的临床、病理及遗传特征。
收集两名患者（先证者及其女儿）的临床资料和骨骼肌标本进行病理分析。获取先证者及其家庭成员（3代7人）的DNA样本，用于层粘连蛋白A/C（LMNA）基因的PCR扩增及直接DNA测序。在鉴定出突变后进行单倍型分析。
先证者具有典型的EDMD临床表现：关节挛缩、进行性肌肉无力和萎缩以及心脏传导功能障碍。肌肉病理学显示肌病性改变并伴有轻微神经病变改变。在两名患者的LMNA基因第9外显子中鉴定出一个杂合错义突变1583（C突变为G）（T528R），而其他家庭成员中未发现。单倍型分析表明先证者及其女儿共享相同的致病单倍型。
这是中国关于AD - EDMD表型和基因型的首次报道。
