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.