The identification of this dual molecular diagnosis both supports the candidacy of TLL1 in ASD pathogenesis and highlights the power of WES in revealing multilocus cardiac phenotypes.
Incomplete heart septation similar to ASD was reported in transgenic mice with both inactive alleles of gene encoding mammalian zinc metalloprotease a mammalian tolloid-like 1 (tll1).
Recent studies on transgenic mice null for tolloid-like 1 (tll1) gene revealed factors possibly involved in signaling pathways that, when absent, might affect heart development and cause problems mimicking those observed in atrial septal defects (ASDs).