ANKRD11 and KBG syndrome: Recent insights about the possible pathological mechanism underlying KBG syndrome have shown that such truncated protein would accumulate inside the cell, by escaping both mRNA decay process and proteasome-mediated degradation.6 As ANKRD11 produces homodimers through N-terminus interactions, the accumulation of the aberrant form of the protein may suggest a dominant-negative mechanism, as already proved in the murine model for KBG syndrome.6