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CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review
Pediatric Pulmonology ( IF 2.7 ) Pub Date : 2021-09-15 , DOI: 10.1002/ppul.25647
Reza Alibakhshi 1 , Aboozar Mohammadi 2 , Sahand Khamooshian 2 , Mohsen Kazeminia 2 , Keivan Moradi 1
Affiliation  

In this study, the spectrum and frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations previously reported among Iranian cystic fibrosis (CF) patients have been reviewed and discussed. Using the keywords of Cystic Fibrosis, CF, CFTR, and Iran, along with their Persian equivalents, a comprehensive search was performed on the online databases. After applying the inclusion and exclusion criteria, 16 articles with an overall sample of 735 Iranian patients with CF, were included in this systematic review. A total of 101 different CFTR gene variants had been reported. The mutation of p.Phe508del (c.1521_1523delCTT) (21.22%) was the most frequent one among Iranian patients with CF. In conclusion, due to the fact that in many provinces of Iran no specific study has been done so far, it seems that the CFTR gene mutation spectrum in patients with CF from Iran is much wider.

中文翻译:

735 例伊朗囊性纤维化患者的 CFTR 基因突变谱:一项全面的系统评价

在本研究中,回顾和讨论了先前在伊朗囊性纤维化 (CF) 患者中报道的囊性纤维化跨膜电导调节 ( CFTR ) 基因突变的谱和频率。使用 Cystic Fibrosis、CF、CFTR和 Iran 等关键词以及它们的波斯语等价词,对在线数据库进行了全面搜索。在应用纳入和排除标准后,本系统评价纳入了 16 篇文章,总样本为 735 名伊朗 CF 患者。共有 101 种不同的CFTR已经报道了基因变异。p.Phe508del (c.1521_1523delCTT) (21.22%) 的突变是伊朗 CF 患者中最常见的突变。综上所述,由于伊朗的许多省份目前还没有进行具体的研究,伊朗CF患者的CFTR基因突变谱似乎要广泛得多。
更新日期:2021-09-15
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