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Egyptian Journal of Medical Human Genetics

Table 5 Clinical and genetic characteristics of patients in the studied sample

From: A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

Pathogenic variant

N

Meconium ileus (MI)

Recurrent respiratory infections

Bronchitis

Pancreatic insufficiency (PI)

Steatorrhea

Failure to thrive

Liver disease

Chronic diarrhea

Mortality

W1282X/W1282X

14

42.6% (6)

50% (7)

35.7% (5)

7.1% (1)

64.3% (9)

64.3% (9)

28.6% (4)

42.6% (6)

35.7% (5)

W1282X/R1162X

1

    

Yes

Yes

 

Yes

 

R1162X/R1162X

1

Yes

Yes

  

Yes

Yes

   

2183AA>G/ 2183AA>G

1

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

394delTT/394delTT

1

 

Yes

Yes

Yes

Yes

Yes

Yes

Yes

 

G542X/G542X

1

Yes

     

Yes

Yes

 

W1282X/F508del

1

 

Yes

   

Yes

   

2183AA>G/N1303K

1

 

Yes

Yes

     

Yes

CFTRdel2-3/G551D

3

 

100% (3)

   

33.3% (1)

33.3% (1)

  

W1282X/R334W

1

 

Yes

Yes

Yes

  

Yes

 

Yes

CFTRdel2-3/R347P

2

 

33.3% (1)

33.3% (1)

    

33.3% (1)

 

CFTRdel2-3/R334W

1

 

Yes

   

Yes

   

CFTRdel2-3/3849+10 Kb C>T

1

Yes

    

Yes

Yes

Yes

 

3199 del 6/I148T

5

 

60% (3)

60% (3)

 

40% (2)

60% (3)

20% (1)

40% (2)

60% (3)

F508del/F508del

31

22.6% (7)

54.8% (17)

16.1% (5)

3.2% (1)

29% (9)

54.8% (17)

29% (9)

38.7% (12)

35.3% (11)

F508del/N1303K

1

     

Yes

   

G85E/G85E

4

25% (1)

75% (3)

75% (3)

 

25% (1)

75% (3)

 

25% (1)

25% (1)

N1303K/N1303K

6

66.7% (4)

33.3% (2)

50% (3)

 

33.3% (2)

50% (3)

16.7% (1)

(3) %50

50% (3)

R334W/R347P

1

 

Yes

       

R347P/R347P

4

 

100% (4)

  

25% (1)

50% (2)

25% (1)

100% (4)

 

1898+1G>A/1898+1G>A

3

33.3% (1)

66.6% (2)

33.3% (1)

33.3% (1)

 

100% (3)

   

1898+1G>A/R334W

1

  

Yes

Yes

     

CFTRdel2-3/-

2

  

50% (1)

 

50% (1)

50% (1)

50% (1)

50% (1)

100% (2)

N1303K/-

1

    

Yes

 

Yes

Yes

 

R1162X/-

1

Yes

Yes

  

Yes

Yes

 

Yes

 

F508del/-

2

 

50% (1)

  

100% (2)

100% (2)

50% (1)

100% (2)

 

2789+5G >A/-

1

 

Yes

  

Yes

    

2184delA/-

1

Yes

Yes

     

Yes

 

R334W/-

2

 

100% (2)

     

50% (1)

 

G85E/-

3

 

66.6% (2)

  

33.3% (1)

100% (3)

 

66.6% (2)

 
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