Fig. 3

Planar cell polarity pathways and craniorachischisis. In the present cohort PDRVs occur in multiple NTD phenotypes but are significantly associated with craniorachischisis (a). The background color of different phenotypes are same as in Fig. 1. Interestingly, except for planar cell polarity pathway, craniorachischisis phenotype is statistically associated with PDRVs in chromatin modification and retinoid metabolism genes (b), fisher exact test was used to calculated P value, and numbers in brackets means occurrences of PDRVs in each gene. In (c) we list all 19 craniorachischisis in the present study and the PDRVs we found in these cases. Yellow background means genes in planar cell polarity pathway; purple background represents genes functioning in chromatin modification; sky blue background represents retinoid metabolism related genes. In all panels, numbers or gene symbols in green represent missense PDRVs occurred; in blue represent splicing PDRVs; in purple represents frameshift PDRVs and in red represents nonsense PDRVs