Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the dystrophin gene: The possible role of repeated motifs in mutation generation
Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the dystrophin gene: The possible role of repeated motifs in mutation generation
复制标题
扩张型心肌病和抗肌营养不良蛋白基因外显子 44 中新的 16 bp 缺失：重复基序在突变生成中的可能作用
DOI：
--
复制
发表时间：
2003
期刊：
影响因子：
--
通讯作者：
I. Kremensky
中科院分区：
文献类型：
--
作者：
A. Todorova;Dimitrina Constantinova;I. Kremensky
在这里，我们报告一个男孩扩张型心肌病和严重的杜氏肌营养不良症（DMD）。致病突变是肌营养不良蛋白基因外显子44中新的16 bp缺失，导致移码和过早翻译终止。外显子44的缺失与扩张型心肌病有关。外显子44中的抗肌萎缩蛋白区域可能被认为是突变可能导致心肌损伤、扩张型心肌病和早期死亡的高危区域之一。在缺失片段和区域内检测到大量的重复基序。这些序列基序可能参与了二级结构的形成，因此它们可能参与了突变的产生。© 2003 Wiley利斯公司
Here we report a boy with dilated cardiomyopathy and severe Duchenne muscular dystrophy (DMD). The disease‐causing mutation was a new 16 bp deletion in exon 44 of the dystrophin gene, which led to frameshifting and premature translation termination. This deletion in exon 44 was associated with dilated cardiomyopathy. The dystrophin region in exon 44 might be considered as one of the high‐risk regions in which mutations could lead to myocardial damage, dilated cardiomyopathy, and early death. The abundance of repeated motifs was detected within the deleted segment and in the region. These sequence motifs might be involved in secondary structure formation and thus they could participate in the mutation generation. © 2003 Wiley‐Liss, Inc.