Table 2

 Phenotype and genotype data of patients carrying CFTR rearrangements

Patient no.GenderCurrent agePhenotypeGenotypeOrigin
Age at diagnosisPancr. statusLung diseaseOtherSweat testAllele 1Allele 2 rearrangement involving exon(s)ParentalGeographic
CBAVD, congenital bilateral absence of the vas deferens; DB, disseminated bronchiectasis; del, deletion; dup, duplication; F, female; M, male; NP, nasal polyposis; Pancr., pancreatic; PI, pancreatic insufficiency; PS, pancreatic sufficiency.
*Case 8: the deletion was identified in the father of two deceased children.
†The CFTRdele3–10,14b–16 deletion was identified in cis with the V754M variation.
1M10 years1 monthPISevere114F508del1FatherNorth eastern Italy
2M16 yearsBirthPISevere130A561E2FatherSouthern Italy
3M10 years1 yearPISevere+R553X17bMotherFrance
4F13 years4 yearsPISevereNP+F508del14b–17bFatherEastern France
5F24 years1 monthPISevere100F508del17a–17bMotherND
6F21 yearsChildhoodPIModerate + F508del17a–17bFatherEastern France
7M35 years1 yearPISevereCBAVD, NP103F508del17a–17bFatherEastern France
8*2 FDeceasedat 2 and6 monthsBirthPISevereNDF508del17a–17bFatherEastern France
9FDeceasedat 15 years5 yearsPISevere3001812–1G→A3–10,14b–16†MotherKabylie (Algeria)/Brittany (France)
10M37 years37 yearsPSNoneCBAVDNDR117H(–7T)1–24MotherFrance
11MDeceasedat 31 years3 monthsPISevereDB90G542X4–8MotherEastern France