A novel homozygous variant in <i>TRAPPC2L</i> results in a neurodevelopmental disorder and disrupts TRAPP complex function

Abstract

Our data fill in a gap in the knowledge of TRAPP architecture with TRAPPC2L interacting with TRAPPC6a, positioning it as a putative adaptor for other TRAPP subunits. Collectively, our findings support the pathogenicity of the <i>TRAPPC2L</i> p.(Ala2Gly) variant.