Table 4

Demographic and clinical data of subjects bearing the [p.Arg117Leu;p.Leu997Phe] complex alleles or the p.Leu997Phe mutation

Gender	Current age (years)	Diagnosis	Age at diagnosis/enrolment (years/months)	Cause of diagnosis/enrolment	Allele 1	Allele 2	SCL* (mmol/L)	Current FEV₁ (%)	Pancreatic status	CFTR gating	Other
F	48	CF (?)	48 years	Respiratory	p.[Arg117Leu;Leu997Phe]	p.[Arg117Leu;Leu997Phe]	90	113	PS	39.0	Pa col.; recurrent pneumonitis; bronchiectasis
M	58	CFTR-RD	58 years	CBAVD	p.[Arg117Leu;Leu997Phe]	p.[Arg117Leu;Leu997Phe]	88	n.a.	PS	n.a.
F	40	CF	33 years	Respiratory	p.[Arg117Leu;Leu997Phe]	p.Arg334Trp	71	91	PS	19.5	Pa col.; nasal polyposis
M	35	CF	28 years	Familiarity	p.[Arg117Leu;Leu997Phe]	p.Arg334Trp	75	120	PS	n.a.	Nasal polyposis
M	33	CF	1 month	NBS	p.[Arg117Leu;Leu997Phe]	p.Gly85Glu	107	96	PS	n.a.	Nasal polyposis
M	24	CF	2 years	Familiarity	p.[Arg117Leu;Leu997Phe]	p.Gly85Glu	80	90	PS	n.a.	Nasal polyposis
M*	40	CFTR-RD	40 years	CBAVD	p.Leu997Phe	p.Leu997Phe	50	95	PS	n.a.
M*	21	Healthy	8 years	Nasal polyposis	p.Leu997Phe	p.Leu997Phe	21	70	PS	28.9	Nasal polyposis
F	46	CFTR-RD	43 years	Bronchiectasis	p.Leu997Phe	p.Asn1303Lys	55	85	PS	n.a.
F*	22	CFTR-RD	11 years	Recurrent pancreatitis	p.Leu997Phe	p.Gly542*	31	103	PS	24.8	Nasal polyposis
M	38	CFTR-RD	32 years	CBAVD	p.Leu997Phe	p.Phe508del	31	n.a.	PS	n.a.
M	41	CFTR-RD	35 years	CBAVD	p.Leu997Phe	p.Phe508del	31	n.a.	PS	n.a.
M*	44	CFTR-RD	39 years	CBAVD	p.Leu997Phe	p.Asn1303Lys	37	n.a.	PS	21.3
M	36	CFTR-RD	30 years	CBAVD	p.Leu997Phe	p.Asn1303Lys	50	n.a.	PS	n.a.
M*	39	CFTR-RD	25 years	CBAVD	p.Leu997Phe	p.Arg553*	31	n.a.	PS	n.a.
M	28	CFTR-RD	25 years	Recurrent pancreatitis	p.Leu997Phe	p.Phe316LeufsX12	31	n.a.	PS	n.a.
M	44	CFTR-RD	27 years	CBAVD	p.Leu997Phe	p.Arg334Trp	42	n.a.	PS	n.a.
M	40	CFTR-RD	39 years	CBAVD	p.Leu997Phe	p.Arg334Trp	46	n.a.	PS	n.a.
M*	39	CFTR-RD	38 years	CBAVD	p.Leu997Phe	p.Asp1152His	44	n.a.	PS	n.a.
F	41	CFTR-RD	36 years	Recurrent pancreatitis	p.Leu997Phe	p.Asp1152His	41	n.a.	PS	n.a.
M	40	CFTR-RD	35 years	CBAVD	p.Leu997Phe	c.[1210-34TG[12];1210-12T[5]]	39	n.a.	PS	n.a.
M	39	CFTR-RD	36 years	Bronchiectasis	p.Leu997Phe	c.[1210-34TG[12];1210-12T[5]]	31	n.a.	PS	n.a.
M	3	Healthy	1 month	NBS	p.Leu997Phe	p.Phe508del	31	n.a.	PS	n.a.
F	2	Healthy	1 month	NBS	p.Leu997Phe	p.Lys684SerfsX38	37	n.a.	PS	n.a.
M*	5	Healthy	1 month	NBS	p.Leu997Phe	p.Phe508del	15	n.a.	PS	n.a.
M	2	Healthy	1 month	NBS	p.Leu997Phe	p.Gly542*	16	n.a.	PS	n.a.
M	5	Healthy	1 month	NBS	p.Leu997Phe	p.Arg117His	35	n.a.	PS	n.a.
M	3	Healthy	1 month	NBS	p.Leu997Phe	p.Asp1152His	26	n.a.	PS	n.a.
M	5	Healthy	1 month	NBS	p.Leu997Phe	p.Asp1152His	27	n.a.	PS	n.a.
F	5	Healthy	1 month	NBS	p.Leu997Phe	c.[1210-34TG[12];1210-12T[5]]	31	n.a.	PS	n.a.
F	5	Healthy	1 month	NBS	p.Leu997Phe	c.[1210-34TG[12];1210-12T[5]]	32	n.a.	PS	n.a.
M	47	Healthy	44 years	Familiarity	p.Leu997Phe	p.Phe508del	60	105	PS	n.a.
M*	31	Healthy	23 years	Familiarity	p.Leu997Phe	p.Phe508del	29	n.a.	PS	36.9
M	32	Healthy	32 years	Familiarity	p.Leu997Phe	p.Asn1303Lys	24	n.a.	PS	n.a.
M	44	Healthy	40 years	Familiarity	p.Leu997Phe	c.489+1G>T	15	n.a.	PS	n.a.
M	41	Healthy	40 years	Partner of CF carrier	p.Leu997Phe	c.[1210-34TG[12];1210-12T[5]]	60	100	PS	n.a.
F*	32	Healthy	26 years	Familiarity	p.Leu997Phe	p.Glu279Asp	20	n.a.	PS	n.a.
F	38	Healthy	38 years	Familiarity	p.Leu997Phe	p.Val938GlyfsX37	23	n.a.	PS	n.a.
M	46	Healthy	38 years	Partner of CF carrier	p.Leu997Phe	p.Arg117His	20	n.a.	PS	n.a.
F	43	Healthy	43 years	Partner of CF carrier	p.Leu997Phe	p.Arg117His	11	n.a.	PS	n.a.
F*	32	Healthy	30 years	Familiarity	p.Leu997Phe	N	n.a.	n.a.	PS	86.4
M	41	Healthy	37 years	Familiarity	p.Leu997Phe	N	n.a.	n.a.	PS	78.9

*In the subjects marked with the asterisk, we performed the analysis of CFTR STR (see text).
CBAVD, congenital bilateral absence of vas deferens; CF, cystic fibrosis; CFTR-RD, cystic fibrosis transmembrane conductance regulator-related disorders; FEV₁, forced expiratory volume in 1 second; n.a., not assessed; N, wild-type allele; NBS, newborn screening; PS, pancreatic sufficiency; SCL, sweat chloride level; the values in italics represent SCL discordant with diagnosis; STR, short tandem repeats.