Table 1.
Common Mutations of CF gene in Saudi Arabia and therapeutic implementation.
| Site of mutation of CF gene | Class of mutation | Gene sequence | Potential therapies and Therapeutic implementation | References |
|---|---|---|---|---|
| 1548delG | Frameshift mutation, Class I | c.1418delG | Translational readthrough therapy, NMD inhibitors, Bypass a specific PTC and restore mRNA levels | Banjar et al., 2021, Al Maghamsi et al., 2020, Pranke et al., 2019, Veit et al., 2016 |
| F508del | Class II | c.1521_1523delCTT | CFTR Modulators, correct CFTR folding and trafficking to the apical PM | Banjar et al., 2021, Hanaa et al., 2020 |
| p.Ile1234Val | Missense mutation, Class II | c.3700A > G | CFTR Modulators, correct CFTR folding and trafficking to the apical PM | Banjar et al., 2021, Hanaa et al., 2020 |
| 3120 + 1G->A | Splicing mutation Class I | c.2988 + 1G > A | Translational readthrough therapy, NMD inhibitors, bypass a specific PTC and restore mRNA levels | Al Maghamsi et al., 2020, Hanaa et al., 2020, Pranke et al., 2019, Veit et al., 2016 |
| N1303K | Class II | c.3909C > G | CFTR Modulators, correct CFTR folding and trafficking to the apical PM | Banjar et al., 2021, Hanaa et al., 2020 |
| S549R | Class II | c.1645A > C or c.1647 T > G or c.1647 T > A |
CFTR Modulators, correct CFTR folding and trafficking to the apical PM |
Banjar et al., 2021 |
| Type/site of mutation | Class of mutation | Gene sequence | Potential therapies and Therapeutic implementation | References |
|---|---|---|---|---|
| H139L | Missense mutation, Class II | c.416A>T | CFTR Modulators, correct CFTR folding and trafficking to the apical PM | Hanaa et al., 2020, Ryan et al., 2020, Veit et al., 2016; |
| 2043delG | Frameshift mutation, Class I | 2043delG | Translational readthrough therapy, NMD inhibitors, bypass a specific PTC and restore mRNA levels | Hanaa et al., 2020, Veit et al., 2016, Banjar and Angyalosi, 2015 |
| p.Gly473GlufsX54 | Frameshift mutation, Class I | c.1418delG | Translational readthrough therapy, NMD inhibitors, bypass a specific PTC and restore mRNA levels | Hanaa et al., 2020, Veit et al., 2016, Banjar and Angyalosi, 2015 |
| p.Phe508del | Frameshift mutation, Class I | c.1521_1523delCTT | Translational readthrough therapy, NMD inhibitors, bypass a specific PTC and restore mRNA levels | Hanaa et al., 2020, Veit et al., 2016, Banjar and Angyalosi, 2015 |
| p.His139Leu | Frameshift mutation, Class I | c.1911delG | Translational readthrough therapy, NMD inhibitors, bypass a specific PTC and restore mRNA levels | Hanaa et al., 2020, Veit et al., 2016, Banjar and Angyalosi, 2015 |
| p.Ser549Arg | Missense mutation, Class II | c.1645A>C or c.1647T>G or c.1647T>A | CFTR Modulators, correct CFTR folding and trafficking to the apical PM | Veit et al., 2016, Banjar and Angyalosi, 2015 |
* CFTR: Cystic fibrosis transmembrane conductance regulator protein; NMD: Nonsense-mediated mRNA decay; PTC: Premature termination codon; PM: Plasma membrane.