Table 1 Patients’ characteristics
Patient numberCFTR genotypeSexAge at diagnosisSymptoms at diagnosisPancreatic statusMeconium ileusColonisation with Pseudomonas aeruginosaAge at onset of P aeruginosa colonisationPeculiar features
Out-of-frame deletion
1CFTRdele2,3(21 kb)/CFTRdele2,3(21 kb)FBirthMeconium ileusPIYesYes6 y 6 moDiabetes mellitus
Nonsense mutation
2R553X/R553XF16 moSteatorrhea, failure to thrivePINoYes10 y
3R1162X/R1162XF5 moMalnutritionPINoYes18 y 4 moDiabetes mellitus, atopy
4R1162X/R1162XM18 dPositive family anamnesisPINoNoAtopy
Splice site mutation
51898+3 A-G/1898+3 A-GF3 moPneumoniaPSNoNoRepetitive episodes of salt loss and dehydration
63849+10 kb C-T/3849+10 kb C-TM20 y 5 moPneumonia, dyspnoea, hypoxaemiaPSNoYes26 y 6 moLung transplant, splenomegaly
73849+10 kb C-T/3849+10 kb C-TM11 y 2 moBronchitis, positive family anamnesisPSNoYes12 y 3 mo
In-frame deletion
8CFTRdele2(ins186)/CFTRdele2(ins186)M3 moDehydrationPINoNo
9CFTRdele2(ins186)/CFTRdele2(ins186)FBirthMeconium ileusPIYesYes9 ylung transplant
10CFTRdele2(ins186)/CFTRdele2(ins186)M2 yBronchitisPINoYes4 y
Missense mutation
11E92K/E92KM8 moSalt loss, muscle weaknessPSNoYes11 y 9 moFatigue, muscle weakness and salt loss during exercise
12G314E/G314EFBronchitisPSNoNo
13L997F/L997FFPSNoNoFamily anamnesis suspicious for CF, prenatal analysis of CFTR
14W1098L/W1098LM2 moSalt loss, failure to thrivePSNoNo
15M1101K/M1101KF5y 9 moPneumoniaPINoNo
16M1101K/M1101KF4 y 6 moAirways infectionsPSNoNo
17M1101K/M1101KM1 moPositive family anamnesisPINoNo
  • d, days; F, female, M, male; mo, months; PI, exocrine pancreatic insufficient; PS, exocrine pancreatic sufficient; y, years

  • Sibpairs: patients 3 & 4, 6 & 7, 9 & 10, 15, 16 & 17.