CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review

被引：5

作者：

Alibakhshi, Reza ^{[1
]}

Mohammadi, Aboozar ^{[2
]}

Khamooshian, Sahand ^{[2
]}

Kazeminia, Mohsen ^{[2
]}

Moradi, Keivan ^{[1
]}

机构：

[1] Kermanshah Univ Med Sci, Sch Med, Dept Biochem, Parastar St, Kermanshah, Kermanshah Prov, Iran

[2] Kermanshah Univ Med Sci, Student Res Comm, Kermanshah, Iran

来源：

PEDIATRIC PULMONOLOGY | 2021年 / 56卷 / 12期

关键词：

cystic fibrosis; CFTR gene; mutation; Iran; CONDUCTANCE REGULATOR GENE; 1ST REPORT; IDENTIFICATION; DELTA-F508; FREQUENCY; GENOTYPE; CHILDREN;

D O I：

10.1002/ppul.25647

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：3644 / 3656

页数：13

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