Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
复制标题
DOI：
10.1186/1471-2350-4-4
复制
发表时间：
2003-07-10
影响因子：
--
通讯作者：
McNally EM
中科院分区：
文献类型：
--
作者：
MacLeod HM;Culley MR;Huber JM;McNally EM
编码核膜蛋白核纤层蛋白A/C的基因突变与至少7种不同的疾病相关，包括常染色体显性扩张型心肌病伴传导系统疾病、常染色体显性和隐性Emery Dreifuss肌营养不良、1B型肢带型肌营养不良、常染色体隐性2型Charcot玛丽牙、下颌骨肢端发育不良、家族性部分脂肪营养不良和Hutchinson-Gilford早老症。我们使用突变检测，以评估核纤层蛋白A/C基因在一个45岁的妇女与家族性扩张型心肌病和传导系统疾病，其家庭已被很好地表征为这种表型。先证者的DNA进行了分析，并确定了一个新的2碱基对缺失c.908_909delCT在LMNA。编码核纤层蛋白A/C的基因突变可导致严重的心脏传导系统疾病，这些疾病可通过起搏器和/或除颤器成功治疗。基因筛查可以帮助评估心律失常的风险和是否需要植入设备。
Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria. We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype. DNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified. Mutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.