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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Fig. 3

Missplicing leads to premature stop codons and therefore truncated MCAD protein products. Shown are extracts of chromatograms representative for the different splice variants. Specific regions are indicated (exon 7 to exon 9). In silico protein products of the ACADM gene were generated, the amino acid sequence is displayed under the chromatogram extracts. Both forms of missplicing lead to premature stop codons and therefore truncated protein products which only differ in two amino acids (WN) at the C-terminus of the truncated protein (a and b corresponding to fragments 294 bp and 215 bp, respectively). c The region highlighted in grey in the chromatogram reflects the region that is partly deleted in the patient’s cDNA shown in A due to missplicing. Probable cryptic donor and acceptor sites that lead to missplicing are indicated. (CTL GRAN = control granulocytes, MNC = monocytes GRAN = granulocytes)

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