Table 1.

List of missense mutations in TCF4 basic helix-loop-helix domain identified in Pitt-Hopkins syndrome patients to date

No	TCF4 mutations	AA changes	References
1	1705 C>T	R569W	Whalen et al., 2012 (6)
2	1726 C>G	R576G	de Pontual et al., 2009 (45)
3	1727 G>A	R576Q	de Pontual et al., 2009 (45)
4	1732 C>T	R578C	Marangi et al., 2012 (57)
5	1733 G>C	R578P	Zweier et al., 2008 (67)
6	1733 G>A	R578H	Zweier et al., 2008 (67)
7	1738 C>T	R580W	Amiel et al., 2007 (2); Zweier et al., 2007 (4)
8	1739 G>A	R580Q	Amiel et al., 2007 (2)
9	1745 G>C	R582P	Takano et al., 2010 (68)
10	1753 A>G	N585D	Marangi et al., 2012 (57)
11	1759 G>C	A587P	Whalen et al., 2012 (6)
12	1841 C>T	A614V	de Pontual et al., 2009 (45)