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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy
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Cystic fibrosis mutation spectrum in north macedonia: A step toward personalized therapy

机译：北马其顿囊性纤维化突变谱：迈向个性化治疗的一步

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The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple, fast and cost-effective genetic testing approach, also for better management of CF patients, including the administration of novel targeted therapies. Here, we present genetic results of 158 unrelated CF patients from the National CF Registry of the Republic of North Macedonia. Initially, patients were screened for the 11 most common CF mutations. Additional CF mutations and large deletions/duplications in the CFTR gene were analyzed using commercial kits. If the genotype was undetermined, all CFTR exons were analyzed using Sanger DNA sequencing or next generation sequencing (NGS) (since 2014). The most common CF mutation, c.l521_ 1523del (legacy name F508del), was found with an overall incidence of 75.9%. Additionally, 26 other pathogenic variants and three large deletions were identified in the CFTR gene as a genetic cause of CF. Two of these, c.1070 CT (p.Ala357Val) and c.2779_2788dup CTTGCTATGG (p.Gly930AlafsTer48), were novel. According to the distribution and prevalence of the pathogenic variants detected in our patients, a fast and cost-effective method, based on a single base extension was designed as a first-line CF genetic test with a 90.0% detection rate within our population. Furthermore, the knowledge of CFTR mutation classes in our CF patients represents the first step toward personalized therapy for CF in our country.
机译：全球最普遍的“罕见”疾病，囊性纤维化（CF）是一种常染色体隐性多系统疾病，由CFTR基因中的突变引起。在某些人口中存在的CFTR突变的知识对于设计简单，快速且具有成本效益的遗传检测方法，也很重要，也可以更好地管理CF患者，包括新型靶向疗法的给药。在这里，我们呈现来自北马其顿共和国国家CF登记处的158名无关的CF患者的遗传结果。最初，患者筛选出11种最常见的CF突变。使用商业试剂盒分析CFTR基因中的额外CF突变和大缺失/重复。如果基因型未确定，则使用Sanger DNA测序或下一代测序（NGS）分析所有CFTR外显子（自2014以来）。最常见的CF突变，C.L521_1523DEL（遗留名称F508DEL）被发现，总发生75.9％。另外，在CFTR基因中鉴定了26种其他致病变体和三种大缺失作为CF的遗传原因。其中两个，C.1070 C> T（P.Ala357Val）和C.2779_2788Dup Cttgctatgg（P.Gly930AlaFst48）是新颖的。根据我们患者检测到的致病变异的分布和患病率，基于单个碱基延伸的快速和成本效益的方法被设计为一线CF遗传测试，我们人口中的检测率为90.0％。此外，我们的CF患者中CFTR突变类别的知识代表了我国CF个性化治疗的第一步。

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