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Table 1 Percentage of cathepsin C activity, gene expression, and genotypes in patients with Papillon-Lefèvre Syndrome and their relatives

From: Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

Family

Subject

%

SD

P

CE

SD

P

c.203 T >; G

c.458C >; T

1

1P1

13.45

2.97

0.0001

0.25

0.05

0.0070

G/G

C/C

 

1P2

-

-

-

-

-

-

G/G

C/C

 

1P3

-

-

-

-

-

-

G/G

C/C

 

1 F

46.99

1.40

0.0041

1.62

0.05

0.0110

T/G

C/C

 

1 M

67.93

2.76

0.0489

0.31

0.11

0.0170

T/G

C/C

2

2P

11.03

4.41

0.0061

1.81

0.09

0.0750

T/G

C/T

 

2 F

59.22

5.76

0.1580

2.99

1.07

0.1190

T/G

C/C

 

2 M

42.91

5.01

0.0561

0.42

0.09

0.1190

T/T

C/T

 

2B1

39.26

3.25

0.0438

0.37

0.06

0.1000

T/T

C/T

 

2B2

-

-

-

1.33

0.01

0.1440

T/T

C/C

3

3P

24.16

1.33

0.0000

1.39

0.66

0.4280

G/G

C/C

 

3 M

55.76

0.90

0.0000

0.44

0.07

0.0070

T/G

C/C

4

4P

14.97

0.10

0.0013

0.19

0.01

0.0080

T/G

C/T

 

4 M

27.75

0.10

0.0018

1.40

0.08

0.0470

T/T

C/T

 

4S

72.64

0.16

0.0106

0.57

0.11

0.0560

T/G

C/C

 

4B

26.93

0.17

0.0017

0.29

0.11

0.0210

T/G

C/C

5

5P

15.32

2.12

0.0000

0.15

0.00

0.0570

G/G

C/C

 

5 F

77.74

12.07

0.0608

2.55

1.81

0.2900

T/G

C/C

 

5 M

56.50

1.26

0.0016

0.46

0.05

0.1260

T/G

C/C

6

6P

10.42

0.86

0.0000

0.34

0.12

0.1030

G/G

C/C

 

6 F

16.92

2.01

0.0000

1.37

0.57

0.0177

T/G

C/C

 

6 M

24.23

7.85

0.0000

1.32

0.39

0.0123

T/G

C/C

 

6S

14.84

3.61

0.0000

0.34

0.21

0.0002

T/G

C/C

7

7P

-

-

-

2.15

0.10

0.0410

G/G

C/C

 

7 F

-

-

-

0.57

0.18

0.2220

T/G

C/C

 

7 M

-

-

-

1.06

0.79

0.8020

T/G

C/C

  1. %, percentage of enzymatic activity in relation to healthy individuals (set as 100%). CE, cathepsin C expression in relation to healthy individuals (set up as 1.0). P, p value from comparison to healthy individuals. (−), sample not available. Subjects: P, patient; F, father; M, mother; B, brother: S, sister. SD, standard deviation.