Skip to main content

Table 5 CFTR gene mutations/variant detected in 72 molecularly tested CF Iraqi patients

From: Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

Genotype Mutation Class Position Nucleotide variation Protein change Zygosity No.(%) of cases
Mutations
3120+1G>Aa Class I Intron 16 c.2988+1G>A homozygous 3(4.17%)
W1282Xb Class I Exon 20 c.3846G>A p.Trp1282X Homozygous 3(4.17%)
F508delc Class II Exon 10 c.1521_1523delCTT p.Phe508del Homozygous 2 (2.78%)
R1162Xb Class IV Exon 19 c.3484C>T p.Arg1162X Homozygous 2(2.78%)
3272-26A>G Class V Intron 17 c.3140-26A>G Homozygous 1(1.38%)
R347P Class IV Exon 7 c.1040G>C p.Arg347Pro Homozygous 1(1.38%)
I507del Class II Exon10 c.1519_1521delATC p.Ile507del Homozygous 1(1.38%)
2183AA>G Class I Exon 13 c.20512052delAAinsG p.Lys684SerfsX38 Homozygous 1(1.38%)
Total cases with detected mutations 14/72 (19.44%)
c.1210-12T[n] background
IVS8 7T/7T Intron 8 c.1210-12 T[7] Homozygous 36 (50%)
IVS8 7T/9T Intron 8 c.1210-12 T[7] /[9] Heterozygous 10 (13.9%)
IVS8 9T/9T Intron 8 c.1210-12 T[9] Homozygous 5 (6.94%)
IVS8 5T/7T Intron 8 c.1210-12 T[5] /[7] Heterozygous 2 (2.78%)
Total cases with detected polymorphic variants 53/72 (73.62%)
Unidentified 5 (6.94%)
  1. aAll 3 cases had additional 7T/7T variant
  2. bOne case had an additional 7T/7T variant
  3. c2 cases had additional 9T/9T variant