Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy.
Assessment of LMNA copy number variation in 58 probands with dilated cardiomyopathy.
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评估 58 名扩张型心肌病先证者的 LMNA 拷贝数变异。
DOI：
10.1111/j.1752-8062.2011.00305.x
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Hershberger,RayE
中科院分区：
文献类型：
--
作者：
Norton,Nadine;Siegfried,JillD;Li,Duanxiang;Hershberger,RayE
拷贝数变异（CNV）在扩张型心肌病（DCM）中的作用尚不清楚。然而，估计表明CNV可能构成孟德尔疾病基础突变的15%。这与DCM特别相关，其中仅确定了约35%的遗传原因。我们以前曾报道在324例无关DCM先证者（5.9%）中，LMNA（核纤层蛋白A/C的编码基因）发生了19个点突变，使其成为DCM最常见的遗传病因。最近报道了25例DCM先证者中1例的LMNA大缺失。为了进一步评估CNV在LMNA心肌病中的作用，我们使用多重连接探针扩增（MLPA）技术，在58例LMNA点突变阴性的DCM先证者中筛选大的缺失和重复。尽管有出色的质量控制和稳健的MLPA结果，我们的研究未能确定任何缺失或重复。我们的结论是，至少对于LMNA，点突变是DCM病因的主要来源。《临床和运输科学》2011年;第4卷：351-352
The contribution of copy number variation (CNV) to dilated cardiomyopathy (DCM) is unknown. However, estimates have suggested that CNVs could constitute 15% of mutations underlying Mendelian disease. This is of particular relevance to DCM, where only approximately 35% of genetic cause has been identified. We have previously reported 19 point mutations inLMNA, the gene encoding Lamin A/C, in a cohort of 324 unrelated DCM probands (5.9%), making it the most common genetic cause of DCM. Recently a large deletion was reported inLMNAin 1 of 25 DCM probands. To further assess the contribution of CNVs inLMNAcardiomyopathy, we used Multiplex Ligation Probe Amplification (MLPA) to screen for large deletions and duplications in 58 DCM probands negative for point mutations inLMNA. Despite excellent quality control and robust MLPA results, our study failed to identify any deletions or duplications. We conclude that at least forLMNA, point mutations are the major source of DCM causation. Clin Trans Sci 2011; Volume 4: 351–352