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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).