Within our two cases of thoracic spina bifida aperta-only, one case carried two PDRVs in genes involved in nuclear pore complex function (NUP98:NM_139132:c.4837C > T: p.R1613C and c.5026C > A: p.H1676N) (Fig. S1B). This evidence concerns the gene NUP98 and spina bifida aperta.