An initial investigation of families from Margarita Island revealed a rare homozygous loss-of-function mutation (W185X) in the poliovirus receptor-related 1 (PVRL1) gene, also known as nectin cell adhesion molecule 1 (NECTIN1), located at 11q23.3, as the underlying cause of autosomal recessive CL/P-ectodermal dysplasia syndrome (CLPED1, also known as orofacial cleft 7 or Zlotogora-Ogur syndrome). This evidence concerns the gene NECTIN1 and Zlotogora-Ogur syndrome.