A novel nonsense substitution identified in the <i><scp>AMIGO</scp>2</i> gene in an Occulo‐Auriculo‐Vertebral spectrum patient

Abstract

The nonsense substitution in AMIGO2 gene introduces a premature stop codon possibly rendering the gene non-functional via nonsense-mediated pathway decay-therefore considered a stronger candidate. Further functional studies are required to confirm whether loss-of-function variants in AMIGO2 can cause OAVS.