Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Figure 4

RNA analyses of TPK1 in RNA from cultured fibroblasts. (a) Allele-specific (allele of father with c.185+15054G>A) PCR products of TPK1 cDNA generated from RNA extracted from patient 5 (P5) and control (C) fibroblasts, with (+) and without (-) emetine treatment 7 hours before harvesting, and C blood, showing longer products in the patient’s samples. (b) Schematic picture of variants identified in P5 TPK1 on DNA level and the resulting aberrantly spliced mRNAs. (c) Box plot showing gene expression of TPK1 in blood and total expression/all different known transcripts separately of P5 and 22 healthy controls. Framed box plot indicates MANE Select transcript (NM_022445.3, ENST00000360057.7).

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