Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup
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DOI：
10.1016/j.nmd.2017.06.007
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发表时间：
2017-11-01
影响因子：
2.8
通讯作者：
Iijima, Kazumoto
中科院分区：
文献类型：
--
作者：
Matsumoto, Masaaki;Awano, Hiroyuki;Iijima, Kazumoto
Duchenne和Becker肌营养不良症（DMD/BMD）是由肌营养不良蛋白基因突变引起的，其特征分别为严重和轻度进行性肌肉萎缩。身材矮小在西半球被报道为DMD的一个特征，但在东方人中尚未得到证实。年轻BMD的高度尚未完全表征。在这里，身高的流动性和类固醇初治的日本179 DMD和42 BMD患者4至10岁之间的回顾性检查身高标准差评分（SDS）。DMD患者的平均身高SDS为-1.08 SD，显著小于正常人（p < 0.001），表明日本DMD患者身材矮小。此外，BMD的平均身高SDS为-0.27 SD，表明身高低于正常人。值得注意的是，DMD的平均身高SDS显著小于BMD的平均身高SDS（p < 0.0001）。在DMD中，在肌营养不良蛋白外显子63-79中具有突变的Dp 71亚组中观察到比在外显子1-62中具有突变的其他亚组更高的身材矮小（身高SDS <-2.5SD）的发生率（27.8%对7.5%，p = 0.017）。这些表明，身高不仅在DMD中，而且在BMD中也受到抗肌萎缩蛋白的影响，并且抗肌萎缩蛋白Dp 71在身高调节中具有作用。(C)2017爱思唯尔B. V.保留所有权利。
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively. Short stature has been reported as a feature of DMD in the Western hemisphere, but not yet confirmed in Orientals. Height of young BMD has not been fully characterized. Here, height of ambulant and steroid naive Japanese 179 DMD and 42 BMD patients between 4 and 10 years of age was retrospectively examined using height standard deviation score (SDS). The mean height SDS of DMD was -1.08 SD that was significantly smaller than normal (p < 0.001), indicating short stature of Japanese DMD. Furthermore, the mean height SDS of BMD was -0.27 SD, suggesting shorter stature than normal. Remarkably, the mean height SDS of DMD was significantly smaller than that of BMD (p < 0.0001). In DMD higher incidence of short stature (height SDS < -2.5 SD) was observed in Dp71 subgroup having mutations in dystrophin exons 63-79 than others having mutations in exons 1-62 (27.8% vs. 7.5%, p = 0.017). These suggested that height is influenced by dystrophin in not only DMD but also BMD and that dystrophin Dp71 has a role in height regulation. (C) 2017 Elsevier B.V. All rights reserved.