Background

Congenital myasthenic syndromes (CMS) are associated with defects in the structure and the function of neuromuscular junctions. These rare disorders can result from mutations in the collagenic tail of endplate acetylcholinesterase (COLQ) essentially associated with autosomal recessive inheritance. With the lowered cost of genetic testing and increased access to next-generation sequencing, many mutations have been reported to date.

Methods and results

In this study we identified the first COLQ homozygous mutation c.1193T>A in the North African population. This study outlines the genetic and phenotypic features of a CMS patient in a Moroccan family. It also describes a novel COLQ missense mutation associated with CMS-5.

Conclusion

COLQ mutations are probably underdiagnosed in these North African populations, this is an issue as CMS-5 may be treated with ephedrine, and albuterol. Indeed, patients can seriously benefit and even recover after the treatment that should be planned according to genetic tests and clinical findings.

中文翻译：

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北非先天性肌无力综合征 5 型的首次表征

背景

先天性肌无力综合征 (CMS) 与神经肌肉接头的结构和功能缺陷有关。这些罕见的疾病可能是由于终板乙酰胆碱酯酶 ( COLQ ) 的胶原尾部发生突变而导致的，这些突变基本上与常染色体隐性遗传有关。随着基因检测成本的降低和下一代测序的增加，迄今为止已经报道了许多突变。

方法和结果

在这项研究中，我们在北非人群中发现了第一个COLQ纯合突变 c.1193T>A。本研究概述了摩洛哥家庭中 CMS 患者的遗传和表型特征。它还描述了一种与 CMS-5 相关的新型COLQ错义突变。

结论

COLQ突变在这些北非人群中可能未被充分诊断，这是一个问题，因为 CMS-5 可以用麻黄碱和沙丁胺醇治疗。事实上，患者可以在根据基因测试和临床发现进行计划的治疗后严重受益甚至康复。