X-linked dilated cardiomyopathy and the dystrophin gene
X-linked dilated cardiomyopathy and the dystrophin gene
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DOI：
10.1016/s0960-8966(99)00015-2
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发表时间：
1999-07-01
影响因子：
2.8
通讯作者：
Muntoni, F
中科院分区：
文献类型：
--
作者：
Ferlini, A;Sewry, C;Muntoni, F
x连锁扩张型心肌病（XLDC）是一种众所周知的遗传性疾病，与Duchenne和Pecker肌营养不良症等位，由肌营养不良蛋白基因突变引起。XLDC是一种罕见的疾病，只有少数家族有充分的特征。在其中的几个病例中，心肌中的肌营养不良蛋白突变与骨骼肌中的表达模式不同。在心脏表型最严重的家族中，心肌通常无法产生肌营养不良蛋白，这是由于该组织中突变对基因转录的特定影响。骨骼肌通过外显子跳跃或心脏无法放置的替代剪接来维持营养不良蛋白的合成，从而避免营养不良的变化。在本文中，我们回顾了迄今为止报道的x连锁扩张型心肌病家族；此外，我们还提供了我们之前描述的两个家族的新转录数据。本综述的目的是尝试一种基因型-表型的相关性和推测常见的致病机制，潜在的这种疾病。(C) 1999 Elsevier Science B.V.版权所有
X-linked dilated cardiomyopathy (XLDC) represents a well known genetic disease, allelic to Duchenne and Pecker muscular dystrophies and caused by dystrophin gene mutations. XLDC is a rare disease and only few families have been fully characterised. In several of them, the dystrophin mutations show a different pattern of expression in cardiac compared to skeletal muscle. In the families with the most severe cardiac phenotype, the cardiac muscle is usually unable to produce dystrophin, due to a specific effect that the mutation(s) have on the gene transcription in this tissue. The skeletal muscle escapes the dystrophic changes by maintaining dystrophin synthesis via exon skipping or alternative splicing that the heart is not able to put in place. In this paper we have reviewed the families with X-linked dilated cardiomyopathy reported so far; in addition we provided novel transcription data on two families we previously described. The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease. (C) 1999 Elsevier Science B.V. All rights reserved.