De novo variants in neurodevelopmental disorders – experiences from a cohort with congenital heart disease

  • Neurodevelopmental disorders have been associated with congenital heart disease (CHD), but whether damaging de novo variants (dDNV) worsen neurologic outcomes or are implicated in this association is yet to be understood.
  • Evidence from this study of 221 patients with CHD demonstrated no association between group dDNV and neurologic outcomes. However, there was a link between chromatin-modifying genes (dDNVs and rare putative loss-of-function [pLOF] variants) and worse neurodevelopmental outcomes and brain scans (all Ps<0.05).
  • According to the authors, dDNVs as a group do not impact neurodevelopment, but some individuals with CHD and chromatin-modifying genes may have worse neurologic outcomes.