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

Abstract

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.

A comprehensive review of cystic fibrosis in Africa and Asia

“…Similar to India and Pakistan, c.1521_1523delCTT (69.74%) mutation is the most common variant in Sri Lankans, mostly diagnosed in a heterogenous state. Variants c.53 + 1G >T, c.2052dup, c.(273 + 1_274-1)_(1679 + 1_1680-1)del (CFTRdele4-11) and c.1393-1G>A identified in this population were previously reported in European CF patients ( Alibakhshi et al, 2021 ). Also detected were rare variant c.1161delC previously identified in India and Pakistan, while variants c.1367T>C (Val456Ala) and c.2738A>G are unique to Sri Lanka.…”

“…She was tested positive using the sweat test ( Masekela et al, 2013 ). Rare cases of CF were also reported in Sri Lanka, with unique types of mutation, potentially linked to genetic flow from India and Europe ( Alibakhshi et al, 2021 ). Just like in South Africa's ( Kawase et al, 2022 ), CF cases in Sri Lanka were initially presented as kwashiorkor, but later confirmed as CF with c.1393-1G>A in one allele while the second mutation could not be identified ( Siddique et al, 2018 ).…”

“…Also detected were rare variant c.1161delC previously identified in India and Pakistan, while variants c.1367T>C (Val456Ala) and c.2738A>G are unique to Sri Lanka. ( Mei-Zahav et al, 2005 , Alibakhshi et al, 2021 ).…”

“… Ref. Country Nucleotide/“Variant cDNA name (Variant protein name) Legacy Name Eskandarani, 2002 Bahrain c.1161delC 1161delC Wei et al, 2020 , Indika et al, 2019 Pakistan c.1161delC 1161delC Mei-Zahav et al, 2005 , Alibakhshi et al, 2021 Sri Lanka c.1161delC 1161delC Rawashdeh and Manal, 2000 Jordan c.3670delA 3670delA Prasad et al, 2010 , Cui et al, 2020 , Liu et al, 2015 China c.3911T>G (p.Ile1304Arg) I1203R Mayer Lacrosniere et al, 2021 Democratic Republic of the Congo (c.399T>C (p.Thr133 = ) 399insT Prasad et al, 2010 , Cui et al, 2020 , Liu et al, 2015 China △E18-E20(c.2909-?_3367 +?del) (p.Gly980_Thr1112delinsGly) CFTR-dele18-20 Prasad et al, 2010 , Cui et al, 2020 , Liu et al, 2015 China △E7-E11(c.744-?_1584 +?del)(p.Arg248_Glu528delinsArgfsX) CFTR-dele7-11 Kabir et al, 2020 , Aziz et al, 2017 , Indika et al, 2019 India 1029del (p.Phe342_Cys343insTer) 1161delC (C343) Prasad et al, 2010 , Cui et al, 2020 , Liu et al, 2015 China 3G>A (p.Met1Ile) M1I Wang et al, 2019 , Teeratakulpisarn et al, 2006 , Lumpaopong et al, 2009 ...…”