Table 4.
Distribution of Common CFTR in KSA Total of 272 patients.
| Mutation | Type | Exon/intron | Pts | % of total | No. of homoz | Homoz % of +CFTR (230) | No. of heteroz | Heteroz % of +CFTR (230) | |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 1548delG | Novel | Exon 10 | 47 | 20% | 36 | 16% | 11 | 5% |
| 2 | F508del | Caucasian | Exon 10 | 29 | 12% | 28 | 12% | 1 | 0.5% |
| 3 | I1234V | African | Exon 19 | 28 | 11% | 28 | 12% | ||
| 4 | 3120+1G→A | African/ Greek |
Intron 16 | 24 | 10% | 24 | 10% | ||
| 5 | H139L | Novel | Exon 4 | 21 | 9% | 18 | 8% | 3 | 1% |
| 6 | 711+1G→A | Novel | Intron 5 | 20 | 8% | 16 | 7% | 4 | 2% |
| 7 | N1303K | European | Exon 21 | 7 | 3% | 7 | 3% | ||
| 8 | S549R | UAE (France) | Exon 12 | 7 | 3% | 7 | 3% | ||
| 9 | 2043delG | Bahrain | Exon 13 | 6 | 2% | 5 | 2% | 1 | 0.5% |
| 10 | 1507del 9 | Novel | Exon 9 | 5 | 2% | 5 | 2% | ||
| 11 | Others | 36 | 15% | 36 | 16% | ||||
| 12 | Not Identified | 11 | 5% | ||||||
| Total | 241 | 100% | 210 | 91% | 20 | 9% |
Legend: KSA- Kingdom of Saudi Arabia, Pts-number of Patients, No-number, Homoz- Homozgous, CFTR- Cystic fibrosis transmembrane regulator gene mutations, Heteroz- Heterozygous.