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The familial forms of early onset pre-eclampsia and related syndromes (HELLP) present with hypertension and proteinuria in the mother and growth restriction of the fetus. Genetically, these clinically similar entities are caused by different founder-dependent, placentally-expressed paralogous genes. All susceptibility genes ( STOX1 ,  lincHELLP ,  INO80B ) identified so far are master control genes that regulate an essential trophoblast differentiation pathway, but act at different entry points. Many genes remain to be identified. Here we demonstrate that a long non-coding RNA (lncRNA) within intron 3 of the  STOX2  gene on 4q35.1 acts as a permissive cis-acting regulator of alternative splicing of  STOX2 . When this lncRNA is mutated or absent, an alternative exon (3B) of  STOX2  is included. This introduces a stop codon resulting in the deletion of a highly conserved domain of 64 amino acids in the C-terminal of the STOX2 protein. A mutation present within a regulatory region within intron 1 of  STOX2  has the same effect after blocking with CRISPR technology: transcripts with exon 3B are upregulated. This proces appears related to transcriptional control by a chromatin-splicing adaptor complex as described for  FGFR2 . For  STOX2 ,  CHD5 , coding for a chromodomain helicase DNA binding protein, qualifies as the chromatin modifier in this process.

Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families