Figure 1.

Schematic location and mutation severity of the pathogenic IQSEC2 variants reported in the study. Legend for the corresponding protein domains: N-terminal coiled coil (CC), IQ calmodulin-binding motif (IQ), SEC7, Pleckstrin homology (PH), a potentially new 7th domain (D7), Proline-rich (PR), and PDZ-binding motif (PDZ). Male and female subjects harboring variants were indicated as squares and circles, respectively. Green dots: de novo occurrence; pink dots: maternal inheritance; no dots indicate that inheritance is unknown (i.e., mother’s data unavailable for Patient ID #3 and genetic analysis in progress for the parents of Patient ID #18).