Table 1—

Clinical Information on R117H and R117C subjects

SubjectGenotypeIVS8Current Age yrsSexSweat Cl mmol·L−1Pancreatic statusPresentationSputum cultureFEV1 % predOther
1ΔF508/R117H9T/5T6M58, 40PSClinicalPA, SA74Daily cough
2ΔF508/R117H9T/5T8F41, 84PSClinicalSA84Daily cough
3ΔF508/R117H9T/5T14F73PIClinicalSA99Daily cough, CBD obstruction
4ΔF508/R117H9T/5T5M53PSNBSClearToo youngDaily cough
5ΔF508/R117H9T/5T4F42, 46PSNBSNo sputumToo youngAsymptomatic
6ΔF508/R117H9T/5TDied (43)F91UnclearClinicalAlcalogenesDied
7ΔF508/R117H9T/5T49M98PSClinicalPA40Daily cough
8ΔF508/R117H9T/5T17M79, 82, 84PSClinicalSA, HI97Atrophic vas
9ΔF508/R117H9T/5T4FInsufficientPSNBSSA, SPnToo youngOccasional cough
10ΔF508/R117H9T/5TDied (19)M85PSClinicalPADied
11ΔF508/R117H9T/5T1M118PSNBSSA, HIToo youngAsymptomatic
12ΔF508/R117H9T/5T14M62PSClinicalSA86Bronchiectasis
13Unknown/R117H7T/5T38F116PSClinicalPA, HI, SA64Daily cough, 6 monthly i.v. AB
14Unknown/R117H9T/5T11M71, 40, 79PSNBSClear88Occasional cough
15Unknown/R117H9T/5T7F61, 58, 79PSNBSSA111Occasional cough
16G542X/R117H9T/5T44Mno recordPIClinicalHI111Clear chest
17ΔF508/R117H9T/7T2F27PSNBSNo sputumToo youngAsymptomatic
18ΔF508/R117H9T/7T2F21PSNBSNo sputumToo youngAsymptomatic
19ΔF508/R117H9T/7T3M32, 39PSNBSNo sputumToo youngAsymptomatic
20ΔF508/R117H9T/7T3M20, 22PSNBSNo sputumToo youngAsymptomatic
21ΔF508/R117H9T/7T3F21, 45, 22PSNBSNo sputumToo youngAsymptomatic
22ΔF508/R117H9T/7T1M52, 64PSNBSClearToo youngAsymptomatic
23ΔF508/R117H9T/7T2M40, 34, 33PSNBSNo sputumToo youngAsymptomatic
24ΔF508/R117H9T/7T3M38, 37, 56PSNBSNo sputumToo youngAsymptomatic
25ΔF508/R117H9T/7T11M23PSSiblingNo sputum62Atrophic vas
26ΔF508/R117H9T/7T14M23PSSiblingNo sputum86Asymptomatic
27ΔF508/R117H9T/7T6M42, 57,31PSNBSNo sputum84Recurrent bronchitis
28ΔF508/R117H9T/7T8M37, 40PSNBSNo sputum92Asthma
29ΔF508/R117H9T/7T1F24, 34, 40PSNBSNo sputumToo youngPersistent cough
30ΔF508/R117H9T/7T2F47PSNBSNo sputumToo youngAsymptomatic
31ΔF508/R117H9T/7T3M29, 60PSNBSNo sputumToo youngAsymptomatic
32ΔF508/R117H9T/7T6F23, 37PSNBSNo sputum133Asthma
33ΔF508/R117H9T/7T2F24, 23PSNBSNo sputumToo youngAsymptomatic
34ΔF508/R117H9T/7T6M25, 34PSNBSNo sputum105Asymptomatic
35ΔF508/R117H9T/7T27F57PSClinicalSA, HI63Adult diagnosis, Bronchiectasis
36ΔF508/R117H9T/7T34F53PSSiblingNo sputum82Asymptomatic
37G551D/R117H7T/7T6M70, 58PSNBSS Pn, B cat, HIToo youngDaily cough
38Unknown/R117H9T/7T31M95, 102PSClinicalPA, SA98Daily Cough, Atrophic vas
39ΔF508/R117C9T/7T5M43, 48, 85UnclearNBSNo sputum123Recurrent cough, Occasional fatty stools
40ΔF508/R117C9T/7T10M57, 50UnclearSiblingNo sputum106Occasional chest infection
41R117H/R117H7T/7T1F23PSNBSNo sputumToo youngAsymptomatic
  • IVS8: Intron-8 polythymidine sequence

  • FEV1: forced expiratory volume in one second

  • M: male

  • F: female

  • PS: pancreatic sufficient

  • PI: pancreatic insufficient

  • PA: Pseudomonas aeruginosa

  • SA: Staphylococcus aureus

  • NBS: new born screening

  • HI: Heamophilus influenza

  • S Pn: Streptococcus pneumonia

  • B cat: Brahmonella catarrhalis

  • CBD: common bile duct

  • i.v.: intravenous

  • AB: antibiotics