Table 2

Phenotype and genotype data of patients carrying CFTR rearrangements

Patient no.	Gender	Current age	Phenotype					Genotype		Origin
Patient no.	Gender	Current age	Age at diagnosis	Pancr. status	Lung disease	Other	Sweat test	Allele 1	Allele 2 rearrangement involving exon(s)	Parental	Geographic
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.
1	M	10 years	1 month	PI	Severe		114	F508del	1	Father	North eastern Italy
2	M	16 years	Birth	PI	Severe		130	A561E	2	Father	Southern Italy
3	M	10 years	1 year	PI	Severe		+	R553X	17b	Mother	France
4	F	13 years	4 years	PI	Severe	NP	+	F508del	14b–17b	Father	Eastern France
5	F	24 years	1 month	PI	Severe		100	F508del	17a–17b	Mother	ND
6	F	21 years	Childhood	PI	Moderate		+	F508del	17a–17b	Father	Eastern France
7	M	35 years	1 year	PI	Severe	CBAVD, NP	103	F508del	17a–17b	Father	Eastern France
8*	2 F	Deceasedat 2 and6 months	Birth	PI	Severe		ND	F508del	17a–17b	Father	Eastern France
9	F	Deceasedat 15 years	5 years	PI	Severe		300	1812–1G→A	3–10,14b–16†	Mother	Kabylie (Algeria)/Brittany (France)
10	M	37 years	37 years	PS	None	CBAVD	ND	R117H(–7T)	1–24	Mother	France
11	M	Deceasedat 31 years	3 months	PI	Severe	DB	90	G542X	4–8	Mother	Eastern France