Table 2 Clinical characteristics of patients with genetic variants in the WFDC2 gene

Family

F1

F2

F3

F4

F5

Patient

Pt1

Pt2

Pt3

Pt4

Pt5

Pt6

Age at onset

Neonatal

Juvenile

Infantile

Juvenile

Juvenile

Juvenile

Age at enrollment (years)

15

11

21

20

34

28

Gender

M

M

F

F

F

F

Height (cm)

181.1

156.7

159.8

156

156.3

157

Weight (kg)

87.3

45.7

45.6

44.3

50.1

39

Type of WGS analysis

Quad

Trio

Trio

Proband only

Duo

Mutations

WFDC2

c.291 C > G (p.C97W)

Homozygous

WFDC2

c.291 C > G (p.C97W)

Homozygous

WFDC2

c.278G > C (p.C93S) Maternal,

c.291 C > G (p.C97W) Paternal

Compound Heterozygous

WFDC2

c.291 C > G (p.C97W)

Homozygous

WFDC2

c.291 C > G (p.C97W)

Homozygous

HPO

HP:0002110

(Bronchiectasis)

HP:0002110

(Bronchiectasis)

HP:0002205

(Recurrent Respiratory Infections)

HP:0002110

(Bronchiectasis)

HP:0002110

(Bronchiectasis)

HP:0002110

(Bronchiectasis)

HP:0000246 Sinusitis

HP:0012265 Ciliary Dyskinesia

HP:0000821 Hypothyroidism

HP:0002110

(Bronchiectasis)

HP:0002721

(Immunodeficiency)

Clinical symptoms

 Sinusitis

Yes

Yes

Yes

Yes

Yes

Yes

 Nasal polyps

Yes

Yes

Yes

Yes

Yes

Yes

 Chronic cough

Yes

Yes

Yes

Yes

Yes

Yes

 Bronchiectasis

Yes

Yes

Yes

Yes

Yes

Yes

 Recurrent respiratory infection

Yes

Yes

Yes

Yes

Yes

Yes

 Infertility

N/A

N/A

N/A

N/A

No*

N/A

 Malignancy

No

No

No

No

No

No

 Others

Dermographism

Pulmonary function test

 FEV1 (measured %)

106

66

58

66

29

48

 FVC (measured %)

125

88

75

78

40

61

 FEV1/FVC (%)

78

69

76

83

66

70