Table 1. Clinical data and characteristics of CFTR gene mutations in eight Chinese CF patients examined in the current study.

Case	C1	C2	C3	C4	C5	C6	C7	C8
Age at diagnosis	20	15	1	13	15	22	4	13
Gender	M	F	F	M	M	F	F	F
Age at onset of symptom	Several months	12 Years	4 Months	1 Year	14 Years	12 Years	3 Months	12 Years
Wt/Ht(kg/m)	52/1.74	42/1.65	8/NA	48/1.6	55/1.78	45/1.67	11/0.93	32/1.49
Family history	None	None	Yes	None	Yes	Yes	None	None
Sweat test [Cl−] (mmol/l)	137	140	108.4	95.2	106.5	101.9	122.1	62
Gastrointestinal symptoms	Recurrent diarrhea, marasmus	Marasmus	Recurrent diarrhea; Meconium ileus suspected	None	None	Marasmus	Malnutrition	Malnutrition
Comorbidity	None	None	None	ABPA	None	ABPA	None	ABPA
Pulmonary function test	FEV1 43.6% PRED FEV1/FVC 56.96%	Not available	Not available	FEV1 61.4% PRED FEV1/FVC 74.5%	FEV1 81.7% PRED FEV1/FVC 77.01%	FEV1 30.2% PRED FEV1/FVC 47.98%	Not available	FEV1 72.9% PRED FEV1/FVC 69.48%
Diagnosis before CF confirmation	Bronchiectasis	Bronchiectasis	Bartter Syndrome	Bartter Syndrome and bronchiectasis	Bronchiectasis	Bronchiectasis	Bronchiectasis	ABPA
PS/PI	PI suspected	PI	PI suspected	PS	PS	PS	PS	PS
Sudan III Staining	Negative	Positive	Negative	Negative	Negative	Negative	Negative	Negative
Sputum culture	Pseudomonas Aeruginosa	Pseudomonas Aeruginosa	Pseudomonas Aeruginosa and Methicillin Resistant Staphylococus Epidermidis	Pseudomonas Aeruginosa	Pseudomonas Aeruginosa	Escherichia coli (extended-spectrum beta-lactamase+) and Pseudomonas Aeruginosa	Pseudomonas Aeruginosa	Negative
CFTR allele 1
Nucleotide change	c.2909G>A	c.2909G>A	c.2909G>A	c.3700A>G	c.3635delTa	c.2909G>A	c.2909G>A	c.2909G>A
Amino acid change	p.G970D	p.G970D	p.G970D	p.I1234V	p.V1212Afs*15	p.G970D	p.G970D	p.G970D
CFTR allele 2
Nucleotide change	c.1521_1523delCTT	c.2374C>T	c.2125C>T	c.959–960insA	not detectedb	c.1997T>Ga	c.263T>G	c.2907A>Ca
Amino acid change	p.F508del	p.R792*	p.R709*	p.S321Ifs*42	NA	p.L666*	p.L88*	p.A969A (ΔE17 p.N886Kfs*4)

Abbreviations: ABPA, allergic bronchopulmonary aspergillosis; CF, cystic fibrosis; CFTR RefSeq, NM_000492.3; F, female; FEV1, forced expiratory volume in 1s; FVC, forced vital capacity; M, male; NA, not applicable; PI, pancreatic insufficiency; pred, predicted; PS, pancreatic sufficiency;

^aNovel mutation (shown in bold) identified in the present study.

^bPerformed MLPA.