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. 2009 Mar 11;17(10):1207–1215. doi: 10.1038/ejhg.2009.40

Figure 3.

Figure 3

The c.374-46T>A mutation in patient FDH5 introduced a novel splice acceptor site in PORCN intron 4. (a) Two of three splice site prediction programs failed to recognize the wild-type splice acceptor site, whereas the novel splice site yielded high scores by all three programs. (b) RT-PCR products were amplified from cDNA of patient FDH5 and two healthy individuals (C1 and C2) with primers located in PORCN exons 4 and 5. The normal 193-bp product is present in FDH5 and two controls, however, an additional amplicon of ∼240 bp was only amplified from the cDNA of FDH5 (white arrow). (c) Part of the sequence profile of the wild-type cloned RT-PCR amplicon (193 bp) of patient FDH5 showed splicing of exon 4 (ex 4) to exon 5 (ex 5). (d) Sequence analysis of the mutant cloned RT-PCR product (237 bp) revealed 44 bp of intron 4 spliced between exon 4 and 5. Coding triplets and corresponding amino acid residues (one-letter code) are indicated.