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Table 3 Distribution of patients with cystic fibrosis considering the genotype for mutations in the CFTR gene and classes of identified mutations

From: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

Genotype Number Percent Group of patients
F508del/F508del 88a 52.1 Patients with two Class I, II and/or III
F508del/G542X 22 13
F508del/N1303K 8b 4.7
F508del/R1162X 8 4.7
F508del/R553X 5 3
F508del/1584-18672pbA > G 4 2.4
F508del/c.1717-1G > A 3 1.8
F508del/R1066C 4 2.4
3120 + 1G > A/R1066C 3 1.8
F508del/2183AA > G 1 0.6
F508del/ 6b-16 exon duplication 2 1.2
F508del/G85E 2 1.2
F508del/S549R (T > G) 2 1.2
F508del/S4X 3c 1.8
G542X/2183AA > G 1 0.6
G542X/R1162X 2 1.2
R1162X/R1162X 4 2.4
F508del/1812-1G > A 4 2.4
2183AA > G/2183AA > G 2 1.2
3120 + 1G > A/3120 + 1G > A 1 0.6
  1. a 4 patients with cystic fibrosis and normal sweat chloride values were excluded (sweat chloride values: 13.10 mEq/L; 21,90 mEq/L; 35.70 mEq/L; 55.30 mEq/L); b 1 patient with cystic fibrosis and normal sweat chloride values in 5 sweat tests was excluded (sweat chloride values: 21.60 mEq/L; 23.44 mEq/L; 24.40 mEq/L; 29.50 mEq/L; 47 mEq/L); c 1 patient with cystic fibrosis and normal sweat chloride value was excluded (sweat chloride value: 52.40 mEq/L); N, Sample size; CFTR, Cystic fibrosis transmembrane regulator