FIGURE 1.

(a) Schematic representation of the PDX1 protein and location of the mutations identified in the four reported cases. The transactivation domain is highlighted in red. The region highlighted in blue is the homeobox domain of the PDX1 protein. (b) Amino acid conservation in the homeodomain. The red rectangles highlight the location of the two homeodomain mutations found in our cohort (cases II and III). The black dashed line indicates the position of the hypomorphic mutation reported by Nicolino et al. ⁹.