In 17 cases affected with only anencephaly (Fig. 4c), PDRVs were enriched in chromatin modification genes as well as in glucose metabolism genes, particularly the case D102 carries two different PDRVs in the INSR gene (INSR: NM_000208: c.1882C > G:p.P628A and c.4028G > A:p.R1343Q). The gene discussed is INSR; the disease is anencephaly.