Table 1

Disease-causing mutations in the cathepsin C gene detected so far.

Sl#

Exon

Type

Mutation

Effect

Origin / Disease

No. of families

1

1

Nonsense

c.72C>A (p.C24X)

Premature stop

Moroccan ¹⁹ / PLS

1

2

1

Nonsense

c.96T>G (p.Y32X)

Premature stop

Mexican ²⁰, §Caucasian ²⁰, French ¹⁹ / PLS

3

3

1

Nonsense

c.145C>T (p.Q49X)

Premature stop

Indian ^A / PLS

1

4

1

Missense

c.116G>C (p.W39S)

AHCR**

Puerto Rican ¹⁶ / PLS

1

5

2

Nonsense

c.205C>T (p.Q69X)

Premature stop

Indian ^A / PLS

1

6

2

Deletion

c.199_222del (p. 67_74)

Frameshift

* Chinese ¹⁵ / PLS

1

7

3

Missense

c.380A>C (p. H127P)

AHCR**

French ¹⁹ / PLS

1

8

3

Missense

c.415G>A (p.G139R)

AHCR**

§S Caucasian ²⁰ / PLS

1

9

3

Insertion

c.445_446insATGT (p.V149fsX157)

Frameshift & premature stop

Indian ¹⁵ / PLS

1

10

Splice site (Intron 3)

IVS3_1G>A

Altered splicing

Egyptian ⁷, Jordanian ²² / PLS

2

11

4

Nonsense

c.545G>A (p.W185X)

Premature stop

Brazilian ²¹ / PLS

1

12

4

Missense

c.587T>C (p.L196P)

AHCR**

Brazilian ³ / PLS

1

13

4

Insertion

622_623insC (p.H208fsX223)

Frameshift & Premature stop

Turkish ¹⁵ / PLS

1

14

4

Nonsense

c.628C>T (p.R210X)

Premature stop

Lebanese⁷, Algerian ¹⁹ / PLS

2

15

5

Nonsense

c.704G>A (p.W235X)

Premature stop

Iranian ¹⁵ / PLS

1

16

5

Missense

c.706G>T (p.D236Y)

AHCR**

φ Spanish ¹⁸ / PLS

1

17

5

Deletion

c.711del14

Frameshift & Premature stop

Algerian ¹⁹ / PLS

1

18

5

Missense

c.745G>T (p.V249F)

AHCR**

Indian-Pakistani ⁷ / PLS

1

19

5

Nonsense

c.748C>T (p.R250X)

Premature stop

Turkish ¹⁵ / PLS

1

20

5

Missense

c.755A>T (p.Q252L)

AHCR**

Egyptian ⁷ / PLS

1

21

6

Missense

c.815G>C (p.R272P)

AHCR**

Lebanese⁷, Turkish ¹⁵, §Caucasian²⁰, (4) Saudi ¹⁷, Holland¹⁹, French ¹⁹ / PLS

9

22

6

Nonsense

c.856C>T (p.Q286X)

Premature stop

Turkish ^9,14,17 / PLS

3

23

6

Missense

c.857A>G (p.Q286R)

AHCR**

Indian ⁹, Spanish¹⁸ / HMS, PLS

2

24

6

Missense

c.872G>A (p.C291Y)

AHCR**

φ Spanish ¹⁸ /PLS

1

25

7

Missense

c.898G>A (p.G300S)

AHCR**

Φ Vietnamese ¹⁵ / PLS

1

26

7

Missense

c.899G>A (p.G300D)

AHCR**

Saudi ¹⁷ / PLS

1

27

7

Missense

c.901G>A (p.G301S)

AHCR**

Indian-Pakistani ⁷, Iranian ¹⁵, Japanese ¹⁶ / PLS

3

28

7

Missense

c.902G>T (p.G301V)

AHCR**

Iranian ¹⁵ / PLS

1

29

7

Missense

c.910T>A (p.Y304N)

AHCR**

Panamanian ¹⁵ / PLS

1

30

7

Nonsense

c.912C>A (p.Y304X)

Premature stop

Indian ^A / PLS

1

31

7

Missense

c.956A>G (p.E319G)

AHCR**

Iranian ¹⁵ / PLS

1

32

7

Deletion

c.984del7

Frameshift & Premature stop

French ¹⁹ / PLS

1

33

7

Missense

c.1015C>T (p.R339C)

AHCR**

Egyptian ^7,15, Turkish¹⁰, Martinique ¹⁹ / PLS

4

34

7

Deletion

c.1028_1029delCT (p.S343X)

Frameshift & Premature stop

Turkish ¹⁴ / PLS

1

35

7

Missense

c.1040A>G (p.Y347C)

AHCR**

Indian-Pakistani⁷, Jordanian ¹⁰ / PLS, PPP

2

36

7

Deletion

c.1047delA (p.G349fsX359)

Frameshift & Premature stop

Turkish ¹⁴ / PLS

1

37

7

Deletion

c.1056delT

Frameshift & Premature stop

French ¹⁹ / PLS

¹

38

7

Deletion

c.1141delC (p.L381fsX393)

Frameshift & Premature stop

§S Caucasian²⁰, French ¹⁹ / PLS

2

39

7

Nonsense

c.1286G>A (p.W429X)

Premature stop

Turkish ^14,15 / PLS

4

40

7

Missense

c.1287G>C (p. W429C)

AHCR**

French¹⁹ / PLS

1

41

7

Missense

c.1360A>G (p.E447G)

AHCR**

Φ Vietnamese ¹⁵ / PLS

1

[A] Novel mutations identified in this study; [20] Zhang et al. 2002; [16] Nakano et al. 2001; [15] Hart et al. 2000c; [17] Zhang et al. 2001; [18] Allende et al. 2001; [19] Lefevre et al. 2001; [7]Toomes et al. 1999; [3] Cury et al. 2002; [21] Hart et al. 2002; [10] Hart et al. 2000b; [14] Hart et al. 1999; [22] Nusier et al. 2002; [9] Hart et al. 2000a. * Proband was a compound heterozygote for the 199–222 del and 458C>T mutations ** Alteration of highly conserved residue. §Probands were compound heterozygote for the 96T>G and 815G>C mutations. §S Proband was a compound heterozygote for the 415G>A and 1141delC mutations. φ Proband was a compound heterozygote for the 706G>T and 872G>A mutations. Φ Proband was a compound heterozygote for the 898G>A and 1360A>G mutations.

Selvaraju et al. BMC Medical Genetics 2003 4:5   doi:10.1186/1471-2350-4-5