Table 2.
Quantitative distribution of EPCAM mutations identified in CTE patients.
| Mutations | Patients with mutation | Total | ||||
|---|---|---|---|---|---|---|
| Chromosomal deletion | del Ex1-4 | 1 (Salomon et al. [16]) | 1 | |||
| del Ex1-7 | 1 (Salomon et al. [16]) | 1 | ||||
| del EcPAM | 1 (Salomon et al. [16]) | 1 (AlMahamed and Hammo [41]) | 2 | |||
| Noncoding/splicing | c.426-1G>A | 1 (Sivagnanam et al. [7]) | 1 (Shakhnovich et al. [25]) | 2 | ||
| c.491+1G>A | 2 (Sivagnanam et al. [7]) | 1 (Ko et al. [15]) | 1 (Mueller et al. [42]) | 5 (Pathak et al. [60]) | 9 | |
| c.492-5T>C | 1 (Salomon et al. [16]) | 1 (Pathak et al. [60]) | 2 | |||
| c.492-2A>G | 4 (Salomon et al. [16]) | 2 (Salomon et al. [19]) | 6 | |||
| c.492-1G>A | 1 (Salomon et al. [16]) | 1 (Pathak et al. [60]) | 2 | |||
| c.555+1G>C | 3 (Salomon et al. [16]) | 1 (Pathak et al. [60]) | 4 | |||
| c.556-14A>G | 1 (Sivagnanam et al. [7]) | 8 (Salomon et al. [16]) | 2 (d'Apolito et al. [30]) | 15 | ||
| 1 (Bodian et al. [26]) | 2 (Pathak et al. [60]) | 1 (Pêgas et al. [43]) | ||||
| c∗118T>C | 1 (Pathak et al. [60]) | 1 | ||||
| Frameshift/truncation | c.38_62dup25 | 1 (Tan et al. [23]) | 1 (Pathak et al. [60]) | 2 | ||
| c.139C>T | 1 (Salomon et al. [16]) | 1 | ||||
| c.227C>G | 1 (Thoeni et al. [44]) | 2 (Salomon et al. [16]) | 1 (Pathak et al. [60]) | 4 | ||
| c.265C>T | 1 (Mueller et al. [25]) | 1 | ||||
| c.316A>T | 1 (Ko et al. [15]) | 1 | ||||
| c.321delC | 1 (Salomon et al. [16]) | 1 | ||||
| c.352_368del | 2 (Salomon et al. [16]) | 2 | ||||
| c.412C>T | 1 (Sivagnanam et al. [14]) | 1 (AlMahamed and Hammo [41]) | 2 | |||
| c.467delC | 1 (Salomon et al. [16]) | 1 | ||||
| c.579delT | 2 (Pathak et al. [60]) | 2 | ||||
| c.540delT | 2 (Pathak et al. [60]) | 2 | ||||
| c.589C>T | 1 (Pathak et al. [60]) | 1 | ||||
| c.654delA | 2 (Salomon et al. [16]) | 2 (d'Apolito et al. [30]) | 4 | |||
| c.498insC | 1 (Al-Mayouf et al. [12]) | 6 (Salomon et al. [19]) | 12 (Salomon et al. [16]) | 2 (AlMahamed and Hammo [41]) | 21 | |
| Missense mutation/in-frame deletion | c.1A>C | 1 (Pathak et al. [60]) | 1 | |||
| c.48_68del21 | 1 (Pathak et al. [60]) | 1 | ||||
| c.113G>A | 1 (Pathak et al. [60]) | 1 | ||||
| c.267G>C | 1 (Pathak et al. [60]) | 1 | ||||
| c.307G>A | 1 (Salomon et al. [16]) | 1 (Tang et al. [30]) | 1 (Pathak et al. [60]) | 3 | ||
| c.314T>G | 1 (Salomon et al. [16]) | 1 | ||||
| c.359A>T | 1 (Salomon et al. [16]) | 1 | ||||
| c.380C>T | 1 (Salomon et al. [16]) | 1 | ||||
| c.437T>A | 1 (d'Apolito et al. [30]) | 1 | ||||
| c.509_511delTCA | 1 (Pathak et al. [60]) | 1 | ||||
| c.757G>A | 1 (Pathak et al. [60]) | 1 | ||||
| Total | 103 | |||||