Figure 4.

Diagram of PDX1 protein structure and reported amino acid changes as well as their phenotypes. The mutations and the phenotypes of the present cases are highlighted in red. Note that all phenotypes (“early-onset diabetes (onset < 35 years),” “late-onset diabetes (onset ≥ 35 years),” “obesity,” and “no diabetes”) except for “neonatal diabetes with homozygous variants” correspond to heterozygous variants. Obesity was defined as a body mass index of ≥ 25 kg/m². “No diabetes” is defined as the state of not having developed diabetes by the age of ≥ 50.