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首页> 外文期刊>Journal of human genetics >Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27
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Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

机译：Becker肌营养不良症家族中的早期进行性扩张型心肌病，与肌营养不良蛋白基因外显子27的新移码突变有关

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We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11 years; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device implantation at the same age. Genetic analysis of one sibling showed a novel frameshift mutation in exon 27 of Duchenne muscular dystrophy (DMD) gene (c.3779_3785delCTTTGGAinsGG), in which seven base pairs are deleted and two are inserted. Although this predicts an amino-acid substitution and premature termination (p.Thr1260Argfs(star)8), muscle biopsy dystrophin immunostaining instead indicates that the mutation is more likely to alter splicing. Despite relatively preserved skeletal muscular performance, both the siblings developed progressive HF secondary to early-onset DCM. In addition, their 7-year-old nephew with delayed gross motor development, mild proximal muscle weakness and markedly elevated serum creatine kinase level (413 000 IU l(-1)) at 16 months was recently demonstrated to have the familial DMD mutation. Here, we report a novel genotype of BMD with early-onset DCM and progressive lethal HF during early adolescence.
机译：我们报告了一个家庭，其中两个患有贝克尔肌营养不良症（BMD）的男性兄弟姐妹在11岁时发展为严重扩张型心肌病（DCM）和进行性心力衰竭（HF）。一名在等待心脏移植的年龄为14岁时死亡，另一名在同一年龄接受左心室辅助装置植入。对一个同胞的遗传分析表明，Duchenne肌营养不良症（DMD）基因（c.3779_3785delCTTTGGAinsGG）外显子27中有一个新的移码突变，其中删除了7个碱基对，并插入了2个碱基对。尽管这预示着氨基酸取代和过早终止（p.Thr1260Argfs（star）8），但肌肉活检肌营养不良蛋白免疫染色反而表明该突变更可能改变剪接。尽管骨骼肌的功能相对得以保留，但两个兄弟姐妹均发生了继发于早期DCM的进行性HF。此外，他们的7岁侄子在16个月时具有明显的总体运动发育延迟，轻度近端肌肉无力和血清肌酸激酶水平（413 000 IU l（-1））明显升高，具有家族DMD突变。在这里，我们报告了一种BMD的新基因型，其中包括早发性DCM和青春期早期进行性致死性HF。

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