Laboratory of Biology and Health, URAC 34, Faculty of Sciences Ben M'Sik, Hassan II University, Casablanca, Morocco.
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Mol Biol Rep. 2021 Oct;48(10):6999-7006. doi: 10.1007/s11033-021-06530-7. Epub 2021 Sep 22.
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.
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.
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.
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）胶原尾部的突变引起的，COLQ 突变主要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技术的普及，迄今为止已经报道了许多突变。
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。本研究描述了摩洛哥一个家庭中 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。
在这些北非人群中，COLQ 突变可能被漏诊，这是一个问题，因为 CMS-5 可能可以用麻黄碱和沙丁胺醇治疗。事实上，患者在治疗后可以得到严重的益处，甚至可以康复，治疗应根据基因检测和临床发现来计划。
