先天性肌萎缩性综合征伴 ColQ 基因突变：三个阿尔及利亚家系的表型和进化特征。
Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
机构信息
Neurology department, Mustapha Bacha university Hospital, Algiers, Algeria.
Neurology department, Mustapha Bacha university Hospital, Algiers, Algeria.
出版信息
Rev Neurol (Paris). 2023 Jun;179(6):570-575. doi: 10.1016/j.neurol.2022.09.008. Epub 2023 Feb 8.
BACKGROUND
Congenital myasthenic syndromes (CMS) are rare genetic neuromuscular disorders. The COLQ gene encoding the collagenous subunit of the acetyl cholinesterase enzyme tail is implicated in a synaptic form of CMS (also called type 5, according to the new gene table 2020 classification).
OBJECTIVE
To study the clinical phenotype of three families with COLQ gene mutations.
METHODS
We report a series of three consanguineous families, with seven affected patients, carrying three different mutations of the COLQ gene, one of which has never been reported in the literature before.
RESULTS
We studied their clinical and paraclinical phenotypes, and try to compare the three families as well as compare them with other series carrying COLQ gene mutations reported in the literature.
CONCLUSION
COLQ gene mutations have phenotypic particularities that must be recognized to propose appropriate genetic study.
背景
先天性肌无力综合征（CMS）是一种罕见的遗传性神经肌肉疾病。编码乙酰胆碱酯酶酶尾胶原亚单位的 COLQ 基因与突触型 CMS（根据新的基因表 2020 分类也称为 5 型）有关。
目的
研究 COLQ 基因突变的三个家系的临床表型。
方法
我们报告了一系列三个近亲家系，共 7 名受影响的患者，携带 COLQ 基因的三种不同突变，其中一种突变以前从未在文献中报道过。
结果
我们研究了他们的临床和临床前表型，并尝试比较这三个家系，以及与文献中报道的其他携带 COLQ 基因突变的系列进行比较。
结论
COLQ 基因突变具有表型特殊性，必须加以认识，以便提出适当的遗传研究。
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