Fig. 1

Schematic representation of the 47 reported Pitt–Hopkins patients disease-causing mutations. The colored shaded areas represent functional domains, including the AD activation domain, NLS nuclear localization signal, CE conserved element, Rep repression domain, NES nuclear export signal, and bHLH basic helix-loop-helix DNA-binding domain. The mutation coordinates are provided according to the TCF4 transcript variant 1 (NM_001083962.2) and GRCh37 for all probands. Horizontal black lines indicate deletions. The black color represents novel variants identified in this study, while the grey color represents variants identified in this study that have been reported previously. The asterisk * denotes a variant (c.1876C > T, p.R626) with a 20% degree of mosaicism identified in this study