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首页> 外文期刊>Molecular syndromology >Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature
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Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature

机译：SLC39A13中的新型无意义突变最初表现为肌病：病例报告和文献复习

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摘要

Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Exome sequencing revealed a novel homozygous nonsense mutation in the iSLC39A13 /igene, causative for spondylocheiro dysplastic Ehlers Danlos syndrome (SCD-EDS), suggesting a connective tissue disorder. Including our patient, only 9 affected individuals from 4 families have been described for SCD-EDS so far. The previously reported patients did not show obvious evidence of myopathy, suggesting a broader clinical presentation than originally suspected. We summarize herein the current knowledge on clinical features as well as pathophysiological pathways for this rare connective tissue disease and discuss the high degree of clinical overlap between myopathic and connective tissue disorders.
机译：肌病包括一组以可变表型为特征的异质性疾病。下一代测序技术的使用越来越多，可以在遗传性肌肉疾病患者中鉴定出高得多的致病基因，并且还表明与其他临床实体（包括结缔组织疾病）的重叠程度很高。在这里，我们介绍了一名14岁的德国患者，该患者最初根据其临床，放射学和肌肉活检结果被怀疑患有肌病。外显子组测序显示 SLC39A13 基因中出现了一个新的纯合性无意义突变，该突变是造成脊椎不稳性增生性埃勒斯·丹洛斯综合征（SCD-EDS）的原因，提示结缔组织疾病。包括我们的患者在内，到目前为止，仅描述了来自4个家庭的9位受影响的人进行SCD-EDS治疗。先前报道的患者没有显示出明显的肌病迹象，表明临床表现比最初怀疑的要广泛。我们在此总结有关这种罕见的结缔组织病的临床特征以及病理生理途径的当前知识，并讨论肌病性和结缔组织疾病之间的高度临床重叠。

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