Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome

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])
	c118T>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