FIGURE 2.

Molecular studies. (a) The PLA2G6(NM_003560.4): c.2035‐926G>A is a single nucleic acid substitution that creates a splice site acceptor gain site. As a consequence, a pseudo‐exon 145 base pairs in length is incorporated into the transcript. A premature stop codon within the pseudo‐exon is anticipated to produce nonsense‐mediated decay of the mRNA transcript. (b) Pseudo‐exon donor site found to be active in two other PLA2G6 transcripts based on information in Ensembl GRCh37/hg19. (c) Relative expression of PLA2G6 in whole blood of proband 1 found to be reduced when compared to controls as measured by PLA2G6 mRNA read counts normalized to total transcriptome exonic reads. Mean of three controls ± SD shown in graph