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Table 1 Clinical characterizations and mutation analysis of Chinese BHDS patients

From: Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Patient/ family No.

Sex

Age

Family history

Spontaneous pneumothorax

Lung cysts

skin lesions

Kidney lesions

Smoking

Mutation (cDNA level)

Mutation (protein level)

Pathogenicity

Evidence

1

F

51

Y

Y

Y

Y

N

N

c.1287C > Ta

p.His429=

VUS

PP3

2–1

F

72

Y

Y

Y

N

N

N

c.1283insGa

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS3, PM1, PM2, PP3, PS1

2–2

F

49

Y

Y

N

N

N

3

F

58

Y

N

Y

N

N

N

c.469_471delTTC

p.Phe157del

Pathogenic (II)

PS1, PS3, PM4, PP3

4

F

58

Y

N

Y

Y

Right renal cysts

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

5–1

F

49

Y

Y

Y

N

N

N

c.1597C > T

p.Gln533Ter

Pathogenic (Ia)

PVS1, PS1, PS3, PM2, PP3

5–2

F

39

N

Y

N

N

N

6

F

56

Y

Y

Y

Y

NA

N

c.1177-5_1177-3delCTC

Pathogenic (II)

PS3, PP3, PS1

7

F

58

N

N

Y

Y

N

N

c.780-12_780-3delTGTGTTCTCCa

VUS

PM2, PM6, PP3

8

F

54

Y

Y

Y

N

N

N

c.1579_1580insA

p.Arg527Glnfs*

Pathogenic (Ia)

PVS1, PS1, PM2, PP3

9–1

F

34

Y

Y

Y

N

Bilateral renal cysts

N

c.249 + 1G > Aa

Pathogenic (Ia)

PVS1, PS3, PM2, PP3

9–2

F

57

N

Y

Y

N

12 pack-years

10

F

61

Y

N

Y

Y

Bilateral renal cysts

N

c.1653_1654insTGa

p.Phe552Cysfs*4

Pathogenic (Ic)

PVS1, PM2, PP3

11–1

F

31

Y

Y

Y

N

N

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

11–2

F

57

N

Y

N

N

N

12

F

45

Y

Y

Y

N

Left renal cysts

N

c.250delGa

p.Gly84Alafs*46

Pathogenic (Ic)

PVS1, PM2, PP3

13

F

39

NA

NA

NA

NA

NA

NA

c.1285delC

p.His429Thrfs*39

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

14–1

F

43

Y

Y

Y

N

N

N

c.1015C > Ta

p.Gln339Ter

Pathogenic (Ic)

PVS1, PM2, PP3

14–2

M

22

N

Y

Y

NA

N

14–3

F

15

N

Y

N

NA

N

15

F

43

Y

N

Y

N

N

N

c.1533G > A

p.Trp511Ter

Pathogenic (Ic)

PVS1, PM2, PP3

16

F

33

Y

Y

Y

Y

N

N

c.1177-2A > Ca

Pathogenic (Ic)

PVS1, PM2, PP3

17–1

F

48

Y

Y

Y

N

NA

N

c.1408delC

p.Cys471Alafs*3

Pathogenic (Ia)

PVS1, PS1, PM2, PP3

17–2

F

22

N

Y

N

NA

N

18–1

M

51

Y

Y

Y

Y

N

N

c.929_930insTTa

p.Pro311Serfs*13

Pathogenic (Ic)

PVS1, PM2, PP3

18–2

F

28

Y

Y

Y

NA

N

19

F

50

NA

NA

NA

NA

NA

NA

c.658C > T

p.Gln220Ter

Pathogenic (Ia)

PVS1, PS1, PM2, PP3

20

F

NA

NA

NA

NA

NA

NA

NA

c.1433-1G > T

Pathogenic (Ic)

PVS1, PM2, PP3

21

F

48

Y

N

Y

N

N

N

c.658C > T

p.Gln220Ter

Pathogenic (Ia)

PVS1, PS1, PM2, PP3

22

F

46

Y

Y

Y

N

N

N

Exon1a

Pathogenic (Ia)

PVS1, PS3, PM1, PM2

23

F

45

Y

N

Y

Y

Left renal hamartoma

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

24

F

35

N

Y

Y

N

N

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

25

F

33

Y

Y

Y

Y

N

N

c.1285delC

p.His429Thrfs*39

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

26

F

53

N

N

Y

Y

N

N

c.1301-2A > Ca

Pathogenic (Ic)

PVS1, PM2, PP3

27

F

44

Y

Y

Y

Y

N

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

28

F

50

Y

Y

Y

Y

Renal cysts

N

c.980_981insCa

p.Glu328Argfs*62

Pathogenic (Ic)

PVS1, PM2, PP3

29

F

44

Y

Y

Y

N

Bilateral renal cysts

N

c.1285dupC

p.His429Profs*27

Pathogenic (Ia)

PVS1, PS1, PS3, PM1, PM2

30

F

54

Y

Y

Y

Y

Right renal cysts

N

c.1227C > Ga

p.Tyr409Ter

Pathogenic (Ic)

PVS1, PM2, PP3

31

F

66

Y

N

Y

Y

Bilateral renal cysts

N

c.282_290delATATATCAGa

p.Tyr95_Ser97del

VUS

PM2, PP1, PP3

  1. aNovel mutation; NA not available, VUS variant of uncertain significance