Novel FHL1 mutation in a family with reducing body myopathy
Novel FHL1 mutation in a family with reducing body myopathy
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DOI：
10.1002/mus.23500
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发表时间：
2013-01-01
期刊：
影响因子：
3.4
通讯作者：
Claeys, Kristl G.
中科院分区：
文献类型：
--
作者：
Schreckenbach, Tobias;Henn, Wolfram;Claeys, Kristl G.
简介：减体肌病是一种罕见的X连锁肌病。其特征是用甲萘醌硝基蓝四唑染色的胞质内包涵体。它是由 FHL1 基因突变引起的，该基因编码四个半 LIM 结构域 1 蛋白 (FHL1)。方法：我们对一个有 4 名受身体肌病减轻影响的个体的家庭中的 FHL1 蛋白进行了临床、肌肉 MRI、组织病理学表征、免疫印迹和遗传分析。结果：我们在 FHL1 中发现了一个新的错义突变（c.449G>C；p.C150S）。患者表现出不对称的近端无力和脊柱侧凸。两名男孩的病程均较严重，发病较早，出现挛缩，并分别在 14 岁和 18 岁时因心力衰竭而死亡。 MRI 显示大腿后内侧和椎旁肌肉脂肪浸润。组织病理学结果显示 FHL1 免疫反应性包涵体。免疫印迹分析显示 FHL1 蛋白减少了 50%。结论：在这项研究中，我们强调了这种肌病的诊断线索，并将我们的数据与文献进行了比较。肌肉神经，2013
Introduction: Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadionenitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1). Methods: We performed a clinical, muscle MRI, and histopathological characterization and immunoblot and genetic analysis of the FHL1 protein in a family with 4 individuals affected by reducing body myopathy. Results: We identified a novel missense mutation in FHL1 (c.449G>C; p.C150S). The patients presented with asymmetric proximal weakness and scoliosis. Both of the boys had a more severe course with earlier onset, contractures, and death due to heart failure at 14 and 18 years of age, respectively. MRI revealed fatty infiltration of posteromedial thigh and paraspinal muscles. Histopathological findings showed FHL1-immunoreactive inclusions. Immunoblot analysis revealed a 50% reduction of FHL1 protein. Conclusion: In this study we highlighted diagnostic clues in this myopathy and compared our data with the literature. Muscle Nerve, 2013