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Table 1 CFTR haplotypes associated with mutations found in CF patients carrying p.I148T in cis with c.3395insA or c.3199del6 and in one CF patient carrying c.3199del6 alone

From: Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Indiv No.

Age at Diagnosis

Phenotype

CFTR Mutations

CFTR haplotype

    

IVS1

IVS8

IVS8

IVS8

470

IVS17B

IVS17B

EGHa

    

CA

CA

TGm

Tn

 

TA

CA

 

CF1

7 yrs

CF-PI

c.394delTT

21

23

10

9

M

36

13

B

   

c.3199del6

22

16

11

7

V

7

17

C

CF2

10 yrs

CF-PS

[c.3395insA;p.I148T]

21

23

10

9

M

7

17

B

   

p.R334W

22

17

11

7

V

46

13

A

CF3

6 ms

CF-PI

[c.3199del6;p.I148T]

21

23

10

9

M

7

17

B

   

p.F508del

21

23

10

9

M

31

13

B

CF4

3 yrs

CF-PI

[c.3199del6;p.I148T]

22

23

nd

9

M

7

17

B

   

p.F508del

22

17

nd

9

M

31

15

B

CF5

6 ms

CF-PI

[c.3199del6;p.I148T]

22

23

nd

9

M

7

17

B

   

p.F508del

22

23

nd

9

M

31

13

B

  1. aEGH, extragenic haplotype XV2c/TaqI, KM19/PstI ; nd, not determined Patients CF1-3 were from the cohort of Montpellier (n = 437), patients CF4-5 were from the cohort of Lyon (n= 801).