Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

Figures

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  Fig. 1. RNA sequencing results from the proband compared to GTEx control data. A Exon 5 of HIBCH. Blue bar indicates the reference exon 5, and the pink bar shows the RNA-seq junction read that spans exon 5, demonstrating a 12 bp truncation and loss of the canonical splice acceptor. B Sashimi plot of the splicing pattern seen in RNA-seq in the proband. A cryptic 89 bp exon is seen in intron 6. Red bar indicates a 3.9 kb deletion seen in 3 individuals in gnomAD SV v4.1.0 with African ancestry. C Cryptic exon within canonical intron 6 of HIBCH. Predicted to result in premature truncation.