Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.

中文翻译：

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用于巴西队列囊性纤维化分子诊断的下一代测序

囊性纤维化 (CF) 是一种常染色体隐性遗传疾病，被认为是白种人人群中最普遍的疾病之一。流行病学资料表明，CF的发病率在同一地区的国家和民族之间存在差异。CF 的发生是由于编码囊性纤维化跨膜传导调节因子 ( CFTR )的基因中的致病变异，位于染色体 7q31.2。迄今为止，已在CFTR数据库中注册了 2,000 多种变体。对这些变体的研究导致通过精准医学为每个患者进行诊断和特定治疗的可能性。在本研究中，CFTR 的完整筛选通过下一代测序 (NGS) 进行，以深入了解在里约热内卢人群中传播的变异，并通过基因型特异性疗法为患者提供治疗。使用 Illumina NGS HiSeq 平台对来自 93 名分子诊断不确定的患者的样本进行CFTR全长筛查。在这些患者中，46 名有两种致病变异，而 12 名只有一种CFTR变异。24 种变异不是我们常规筛查的一部分。在这 24 个变体中，V938Gfs 37 以前没有在 CF 数据库中描述过。这项研究实现了对 CF 患者的分子诊断，并确定了基因型特异性治疗的可能分子候选者。