In this study, using targeted deep sequencing and droplet digital PCR (ddPCR), we identified a recurrent GJA4 mutation (c.121G > T [p.Gly41Cys]) in OCVMs, whose genetic cause has been previously undefined despite their typical histological characteristics as venous malformations, the most frequent form of vascular malformations. This evidence concerns the gene GJA4 and vascular malformation.