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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