Clinical study of DMD gene point mutation causing Becker muscular dystrophy

oleh: Ji-qing CAO, Juan YANG, Ya-qin LI, Shan-wei FENG, Fei CHEN, Hui ZHENG, Ying-yin LIANG, Bao-jian ZHAO, Xu ZHANG, Hui-li ZHANG, Yu-ling ZHU, Cheng ZHANG

Format: Article
Diterbitkan: Tianjin Huanhu Hospital 2015-06-01

Deskripsi

<p><strong>Background</strong>  <em>DMD </em>gene point mutation, mainly nonsense mutation, always cause the most severe Duchenne muscular dystrophy (DMD). However, we also observed some cases of Becker muscular dystrophy (BMD) carrying <em>DMD</em> point mutation. This paper aims to explore the mechanism of <em>DMD </em>point mutation causing BMD, in order to enhance the understanding of mutation types of BMD.  <strong>Methods</strong>  Sequence analysis was performed in 11 cases of BMD confirmed by typical clinical manifestations and muscle biopsy. The exon of <em>DMD </em>gene was detected non-deletion or duplication by multiplex ligation-dependent probe amplification (MLPA).  <strong>Results</strong>  Eleven patients carried 10 mutation types without mutational hotspot. Six patients carried nonsense mutations [c.5002G&gt;T, p.(Glu1668X); c.1615C &gt; T, p.(Arg539X); c.7105G &gt; T, p.(Glu2369X); c.5287C &gt; T, p.(Arg1763X); c.9284T &gt; G, p.(Leu3095X)]. One patient carried missense mutation [c.5234G &gt; A, p.(Arg1745His)]. Two patients carried frameshift mutations (c.10231dupT, c.10491delC). Two patients carried splicing site mutations (c.4518 + 3A &gt; T, c.649 + 2T &gt; C).  <strong>Conclusions</strong>  <em>DMD </em>gene point mutation may result in BMD with mild clinical symptoms. When clinical manifestations suggest the possibility of BMD and MLPA reveals non?deletion or duplication mutation of <em>DMD </em>gene, BMD should be considered. Study on the mechanism of DMD point mutation causing BMD is very important for gene therapy of DMD.</p><p> </p><p><strong>DOI: </strong>10.3969/j.issn.1672-6731.2015.06.005</p>