Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
复制标题
DOI：
10.1161/01.cir.101.5.473
复制
发表时间：
2000-02-08
期刊：
影响因子：
37.8
通讯作者：
Mestroni, L
中科院分区：
文献类型：
--
作者：
Brodsky, GL;Muntoni, F;Mestroni, L
背景-扩张型心肌病是一种以收缩功能受损和心室扩张为特征的心肌疾病。经常观察到该病的家族传播，疾病表型的临床和形态学变异性表明遗传异质性。在这里报告的家族MDDC 1中，疾病表型是严重的，其特征是常染色体显性传播模式。此外，大多数受影响的家庭成员表现出轻微的骨骼肌involvement.Methods和结果的临床观察的基础上，在MDDC 1家族的心脏和骨骼肌异常，核纤层蛋白A/C基因在这个家族进行了检查。从基因组DNA中扩增编码区并测序。一个单核苷酸缺失被确定在外显子6，和所有受影响的个人被发现是杂合的这种deletion. Conclusions-杂合性核纤层蛋白A/C的外显子6中的单核苷酸缺失分离与心脏和骨骼异常观察MDDC 1家庭。（循环。2000;101：473-476）。
Background-Dilated cardiomyopathy is a form of heart muscle disease characterized by impaired systolic function and ventricular dilation. Familial transmission of the disease is frequently observed, and genetic heterogeneity is indicated by clinical and morphological variability in the disease phenotype. In the family MDDC1 reported here, the disease phenotype is severe and characterized by an autosomal dominant pattern of transmission. In addition, the majority of affected family members show signs of mild skeletal muscle involvement.Methods and Results-On the basis of the clinical observation of both cardiac and skeletal muscle abnormalities in the MDDC1 family, the lamin A/C gene was examined in this kindred. Coding regions were polymerase chain reaction-amplified from genomic DNA and sequenced. A single nucleotide deletion was identified within exon 6, and all affected individuals were found to be heterozygous for this deletion.Conclusions-Heterozygosity for a single nucleotide deletion in exon 6 of lamin A/C segregates with both the cardiac and skeletal abnormalities observed in the MDDC1 family. (Circulation. 2000;101:473-476.).