The H237P variant (rs146054764), occurring in trans with a G309* frameshift mutation in two sibling fetuses diagnosed with craniorachischisis, results in complete absence of detectable caspase-9 protein expression, and substantially downregulated apoptosis in fetal fibroblasts, suggesting that this amino residue is critical for caspase-9 protein stability (Spellicy et al., 2018). This evidence concerns the gene CASP9 and craniorachischisis.