Table 1

Characteristics of the 13 CF patients with mutation 1811+1.6kbA>G

	Patient No
	1	2	3	4	5	6	7	8	9	10	11	12	13
*1811 = 1811+1.6kbA>G; †deceased; ‡normal values: > 200 μg/g
Genotype*	1811	1811	1811	1811	1811	1811	1811	1811	1811	1811	1811	1811	1811
	1811	1811	2183AA>G	F508del	F508del	F508del	F508del	F508del	F508del	G542X	N1303K	N1303K	W1063X
Sex	M	M	F	M	F	F	M	F	M	F	F	M	M
Current age (y)	8.3	4.9	12.5	2.2	24.2	22†	22.1	18.1	1.3	10.6	23.5†	16†	14
Age at diagnosis (y)	0.3	0	0.1	0	0.5	1	10	4	0	3	0.1	6	0.3
First symptoms	Digestive	Meconium ileus	Neonatal screening	Meconium ileus	Pulmonary, hypotrophy	Pulmonary, hypotrophy	Digestive	Pulmonary, digestive, hypotrophy	Meconium ileus	Pulmonary, digestive	CF family history	Pulmonary	Pulmonary, digestive
Sweat chloride (mmol/l)	120	70	77	90	82	115	70	120	57	90	77	63	108
P aeruginosa colonisation	No	Yes	No	No	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Weight (SD)	−2	−3	−0.5	−1	−2	−2	0.5	−3	0.5	−2	0	−3	−3
Height (SD)	−2	−1.5	−0.5	0	−2	0	1	−2.5	1.5	−2	0	−3	−3
FEV (% predicted)	111		104			35	33	54		70	68	30
FVC (% predicted)	102		102			45	58	67		90		40
Brasfield score	9	13	5	2		18	20	16	0	10	12	21	3
Shwachman score			90		80	50	55	60	95	80	55	35
Elastase (μg/g)‡		20		16					15				15
Pancreatic insufficiency	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Other clinical features	Biliary lithiasis	Gastro-oesophageal reflux		Dehydration	Biliary lithiasis, heart-lung transplantation	Type 2 diabetes	Malnutrition				Severe malnutrition		Congenital encephalopathy