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

Table 3

Quantitative distribution of SPINT2 mutations identified in CTE patients.

Mutations		Patients with mutation				Total
Noncoding/splicing	c.593-1G>A	5 (Heinz-Erian et al. [2])				1
	c.337+2T>C	1 (Heinz-Erian et al. [2])				1
	c.553+2T>A	1 (Heinz-Erian et al. [2])				1
Frameshift/truncation	c.172dupG	1 (Salomon et al. [16])				1
	c.166_167dupTA	1 (Hirabayashi et al. [31])				1
Missense mutation	c.488A>G	9 (Heinz-Erian et al. [2])	1 (Sivagnanam et al. [17])	1 (Slae et al. [29])	9 (Salomon et al. [16])	24
		2 (Holt-Danborg et al. [52])	1 (d’Apolito et al. [30])	1 (Hirabayashi et al. [31])
	c.1A>T	1 (Heinz-Erian et al. [2])				1
	c.2T>C	2 (Salomon et al. 16])				2
	c.247G>T	1 (Salomon et al. [16])				1
	c.442C>T	2 (Salomon et al. [16])				2
	c.502G>A	2 (Salomon et al. [16])				2
	c.477A>G	1 (Holt-Danborg et al. [52])				1
	c.481T>G	1 (Holt-Danborg et al. [52])				1
Total						39