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Table 1 Clinical manifestations and CFTR mutations for CF patients from this study

From: Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

No.

Sex

Age at Dx (y)

Age at onset (y)

Weight/ Height (kg/m)

BMI Nutrition status

Family history

Sweat test Cl, mmol/l)

Pulmonary function FEV1% pred; FEV1/FVC)

Pancreatic insufficiency

Sudan III staining

Gastrointestinal symptoms

Other comorbidities

Diagnosis before CF confirmation

Sputum culture

CFTR Variant 1

CFTR Variant 2

cDNA name

Protein name (Legacy name)

cDNA name

Protein name (Legacy name)

1

F

22

10

48/1.62

18.3 underweight

none

113.7

86.4%; 80.60%

none

NA

chronic gastritis

NP

bronchiectasis; TB

PA

c.2909G > A b

p.G970D (G970D)

c.3068 T > G

p.I1023R

2

F

11

new born

39/1.5

17.3

none

164.7

85.9%; 74.66%

none

negative

none

ABPA

none

PA

c.2909G > A b

p.G970D (G970D)

c.2997_3000delAATT

p.I1000* (3129del4)

3

F

14

12

43/1.65

15.8 BMI < P15c

sister died at 7 m for unknown reason

183

60.5%; 62.21%

PI

positive

diarrhea

ABPA

bronchiectasis

MRSA,

MSSA

c.2909G > A b

p.G970D (G970D)

c.2909G > A b

p.G970D (G970D)

4

F

18

8

52/1.62

19.8

None

199

46.7%; 56.87%

none

negative

diarrhea

ABPA

none

PA, MA

c.1766 + 5G > T b

(1898 + 5G- > A)

c.1766 + 5G > T b

(1898 + 5G- > A)

5

M

22

2

65/1.7

22.5

None

151.4

61.1%; 61.83%

none

negative

none

none

pneumonia

PA

c.607A > T a

p.I203F

c.3635delT

p.V1212Afs*16

6–1

F

30

15

45/1.56

18.5

Sister (6–2): CF

117.9

38.4%; 60.32%

none

negative

none

sinusitis, HA

none

PA

c.2909G > A b

p.G970D (G970D)

c.2909G > A b

p.G970D (G970D)

6–2

F

33

30

50/1.5

22.2

Sister (6–1): CF

161.1

91.6%; 73.32%

none

NA

none

none

none

NA

c.2909G > A b

p.G970D (G970D))

c.2909G > A b

p.G970D (G970D)

7

F

4

0.67

15/1.06

13.3 BMI < P5c

None

80

NA

PI

NA

fatty diarrhea

sinusitis

none

PA

c.325 T > G a

p.Y109D

c.3196C > T b

p.R1066C (R1066C)

8

F

18

13

55/1.7

19.0

None

85

44.6%; 56.69%

none

negative

none

none

bronchiectasis

PA, MSSA

c.293A > G b

p.Q98R (Q98R)

c.2353C > T b

p.R785* (R785X)

9

F

18

11

52.5/1.6

20.5

None

120

49.2%; 75.7%

none

negative

none

sinusitis, HA

DPB

PA, MRSA

c.54-?_273 +?del (E2–3) a

not detected

10

F

18

5

45/1.64

16.7 underweight

None

218.4

25.9%; 56.26%

none

NA

none

sinusitis, HA

bronchiectasis

negative

c.3883_3886delATTT b

p.I1295Ffs*32

c.2909G > A b

p.G970D (G970D)

11

F

16

0.5

30/1.58

12.0 BMI < P3c

None

NA

21.8%; 50.34%

none

NA

None

sinusitis, NP

TB

PA

c.2909G > A

p.G970D (G970D)

c.1657C > T b

p.R553* (R553X)

12

M

12

5

31/1.48

14.2 BMI < P3c

None

210

84.3%; 74.79%

PI

positive

lipid drops in feces, hepatomegaly

sinusitis

bronchiectasis

PA

c.405_406dupAC

p.L136Hfs*18

c.1388G > A

p.G463D

13

M

22

14

77/1.78

24.3

None

192

86.1%; 88.35%

none

negative

none

CBAVD, sinusitis

bronchiectasis

SA, KP, PA

c.2125C > T b

p.R709* (R709X)

c.2909G > A b

p.G970D (G970D)

14

M

21

10

50/1.7

17.3 underweight

None

133

46.0%; 60.25%

PI

positive

none

ABPA, CBAVD, sinusitis

TB

PA, MSSA

c.2547C > A b

p.Y849* (Y849X)

c.2909G > A b

p.G970D (G970D)

15

F

20

12

54/1.7

18.7

None

63

58.3%; 61.37%

none

negative

none

sinusitis, HA

DPB

PA

c.3196C > A

p.R1066S (R1066S)

not detected

16

F

16

5

50/1.7

17.3

sister: repeated pulmonary infection and died at 10

154

84.7%; 80.91%

none

negative

none

ABPA, sinusitis

bronchopneumonia

PA

c.1679 + 2 T > C

c.2658-1G > C b

(2790-1G- > C)

17

F

22

14

45/1.58

18.0

none

81

93.6%; 88.36%

none

NA

none

ABPA

bronchiectasis

negative

c.293A > G b

p.Q98R (Q98R)

c.293A > G b

p.Q98R (Q98R)

18

M

18

6

42.5/1.7

14.7 underweight

none

99

26.2%; 55.40%

suspected PI

NA

abdominal distension

CBAVD

none

PA

c.595C > T

p.H199Y (H199Y)

c.2909G > A b

p.G970D (G970D)

19

F

44

6

50/1.62

19.1

none

NA

NA

none

NA

none

none

bronchiectasis

PA

c.1716C > A a

p.D572E

c.2909G > A b

p.G970D (G970D)

  1. a Novel mutations
  2. b Variants annotated as CF-causing in the CFTR2 database (http://cftr2.org) by functional tests in cell-based systems
  3. c BMI percentile for Chinese children and adolescents [9]
  4. ABPA allergic bronchopulmonary aspergillosis, BMI body mass index, CBAVD congenital absence of the vas deferens, DPB diffusive pan-bronchiolitis, Dx diagnosis, FEV1 forced expiratory volume in 1 s, FVC forced vital capacity, HA hypoalbuminemia, MA Mycobacterium avium, MSSA methicillin-sensitive Staphylococcus aureus; MRSA methicillin-resistant Staphylococcus aureus; NA not available, NP Nasal polyp; PA Pseudomonas aeruginosa; PI pancreatic insufficiency; KP Klebsiella pneumoniae; SA Staphylococcus aureus; TB tuberculosis