Table 1.

CFTR genotypes and clinical characteristics of patients with one CFTR mutation after CFTR screening or scanning

ID	Sweat [Cl−]*	FEV1†	Pseudomonas infection	NPD	CBAVD	CFTR genotype upon entry to study (method)	CFTR genotype after sequencing
1	52	57	Yes	ND	ND	ΔF508/unknown, IVS8 5T/9T (c.1210-12T[5]/c.1210-12T[9]) (comprehensive scan)	ΔF508/IVS8-TG12-5T
2	98	79	No	CF	Yes	ΔF508/unknown (comprehensive scan)	ΔF508/S492F [p.Ser492Phe]
3	89	62	No	ND	NA	ΔF508/unknown (screened – 86 mutations)	ΔF508/P205S [p.Pro205Ser]
4‡	65	58	Yes	ND	NA	R553X/unknown (screened – 86 mutations)	R553X/711+3 A→G
5‡	66	82	Yes	ND	Yes	R553X/unknown (screened – 70 mutations)	R553X/711+3 A→G
6	72	71	Yes	CF	No	ΔF508/unknown¶	ΔF508/unknown††
7	59	106	Yes	Abnormal§	NA	ΔF508/unknown¶	ΔF508/unknown††
8	37	85	No	CF	NA	ΔF508/unknown¶	ΔF508/unknown††
9	40	112	No	ND	ND	ΔF508/unknown (comprehensive scan)	ΔF508/unknown
10	66	ND	Yes	ND	ND	621+1G→T/unknown (comprehensive scan)	621+1G→T/ unknown††
11	58	ND	No	ND	ND	NA**	R764X/unknown††

^*Sweat [Cl⁻] concentration is expressed as mmol/l. Normal <40 mmol/l; borderline 40–60 mmol/l; CF >60 mmol/l.

^†Forced expiratory volume in 1 s (FEV₁) is expressed as per cent predicted.

^‡Patients 4 and 5 are siblings.

^§Baseline in the CF range with normal responses to amiloride, low [Cl⁻] and isoproterenol.

^¶Patients are described in Groman et al 2002.⁵

^**No CFTR screening was performed.

^††Reduction in RNA from ‘unknown’ allele.

CBAVD, congenital bilateral absence of the vas deferens; CF, cystic fibrosis; ND, not done; NPD, nasal potential difference.