Table 3 Clinical data and CFTR gating activity on nasal epithelial cells obtained from several CF patients and carriers
From: S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
Patient | Age (years) | Genoytpe | SCL at diagnosis (mEq/L) | PS | FEV1 at enrollment (%) | Sputum Pathogens | CFTR gating (%) |
|---|---|---|---|---|---|---|---|
Case #1 | 19 | F508del/F508del | 118 | NO | 64 | Pa | 6,2 |
Case #2 | 21 | N1303Â K/ [R74;V201Â M;D1270] | 109 | YES | 119 | Hi, Mssa | 9,8 |
Case #3 | 23 | N1303 K/711 + 1G > T | 89 | NO | 54 | Pa | 5,2 |
Case #4 | 19 | W1282X/D1152H | 52 | YES | 115 | Mssa | 20,3 |
Case #5 | 15,7 | S737F/W1282X | 71 | YES | 99 | Pa | 15,6 |
Case #6 | 15,8 | S737F/Dele22_24 | 51 | YES | 108 | Mssa | 12,7 |
Case #7 | 42 | F508del heterozygous | NA | NA | NA | NA | 40,7 |
Case #8 | 48 | G542X heterozygous | NA | NA | NA | NA | 76,8 |