Exome sequencing or whole genome sequencing approaches are warranted in order to examine the role of additional PCP genes such as PRICKLE, ANKRD6 (ankyrin repeat domain 6; also known as DIVERSIN, the orthologue of diego), FUZ, and to detect non-PCP genes that may contribute to these NTD phenotypes. The gene discussed is FUZ; the disease is neural tube defect.