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A Rare Case of Severe Congenital RYR1-Associated Myopathy

机译：严重先天性RYR1相关性肌病罕见病例

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摘要

Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that required mechanical ventilation, clubfoot, and other dysmorphic features. The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). This report confirms that early diagnosis and accurate study of genomic disorders are very important, enabling proper genetic counselling of the reproductive risk, as well as disease prognosis and patient management.
机译：先天性肌病是一组罕见的遗传性疾病，由肌张力低下和肌肉无力定义。我们报告了男性早产儿的临床和遗传特征，其表型的特点是严重的肌张力低下和反应不足，需要机械通气，马蹄内翻足和其他畸形特征的严重呼吸窘迫综合征。先证者及其父母和妹妹的完整外显子组测序完成了诊断程序，该序列显示了ryanodine受体基因（RYR1）中的新突变，该基因映射到染色体19q13.2，并编码钙的骨骼肌同种型质网（RyR1）中的释放通道。该报告证实，对基因组疾病的早期诊断和准确研究非常重要，这可以为生殖风险以及疾病的预后和患者管理提供适当的遗传咨询。

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