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. 2023 Jan 19;29(1):180–189. doi: 10.1038/s41591-022-02142-1

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© Crown 2023, corrected publication 2023

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Extended Data Fig. 7 — RNA sequencing analysis for interpretation of variant effect in PED005, PED013 and PED024 (a) RNA-seq confirmed that the paternal MKS1 c.1408-34_1408-6del variant results in skipping of exon 16 in the proband (red) versus control (blue) sample. The novel maternal c.1024 + 1 G > T variant revealed altered splicing downstream of exon 11, resulting in partial inclusion of intron 12. (b) RNA-seq for PED013, showing skipping of exon 8 in the proband sample (red) versus control (blue) as a result from the synonymous PIBF1 c.954 G > A p.(Lys318=) variant. (c) RNA-seq results for PED024, showing retention of intron 2 (yellow box) in the proband sample (red) verus control samples (blue and green), and much lower expression values which are likely due to nonsense mediated decay as a result from the intronic EIF2B2 c.284 + 5 G > T variant.