Department of Cardiovascular Medicine, Second Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Chin Med J (Engl). 2009 Dec 5;122(23):2840-5.
Mutations of the LMNA gene encoding lamin A and C are associated with dilated cardiomyopathy (DCM), conduction system defects and skeletal muscle dystrophy. Here we report a family with a mutation of the LMNA gene to identify the relationship between genotype and phenotype.
All 30 members of the family underwent clinical and genetic evaluation. A mutation analysis of the LMNA gene was performed. All of the 12 exons of LMNA gene were extended with polymerase chain reaction (PCR) and the PCR products were screened for gene mutation by direct sequencing.
Ten members of the family had limb-girdle muscular dystrophy (LGMD) and 6 are still alive. Two patients suffered from DCM. Cardiac arrhythmias included atrioventricular block and atrial fibrillation; sudden death occurred in 2 patients. The pattern of inheritance was autosomal dominant. Mutation c.73C > G (R25G) in exon 1 encoding the globular domains was confirmed in all of the affected members, resulting in the conversion of arginine (Arg) to glycine (Gly).
The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene.
编码核纤层蛋白 A 和 C 的 LMNA 基因突变与扩张型心肌病（DCM）、传导系统缺陷和骨骼肌病有关。在这里，我们报告了一个带有 LMNA 基因突变的家族，以确定基因型与表型之间的关系。
对该家族的 30 名成员进行了临床和遗传评估。对 LMNA 基因进行突变分析。采用聚合酶链反应（PCR）扩增 LMNA 基因的 12 个外显子，直接测序筛选基因突变。
该家族有 10 名成员患有肢带型肌营养不良症（LGMD），目前仍有 6 人存活。有 2 名患者患有 DCM。心律失常包括房室传导阻滞和心房颤动；有 2 名患者发生猝死。遗传方式为常染色体显性遗传。在所有受影响的成员中均证实了外显子 1 中编码球状结构域的 c.73C > G（R25G）突变，导致精氨酸（Arg）转化为甘氨酸（Gly）。
我们在此报道的一个中国家族的 LMNA 基因外显子 1 中的 R25G 突变具有恶性心律失常和轻度 LGMD 的表型，提示家族性 DCM、传导系统缺陷和骨骼肌病患者应通过遗传检测筛查 LMNA 基因。
