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Table 1 Disease-causing mutations in the cathepsin C gene detected so far.

From: Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

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
  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.