Figure 3

Molecular characterization of the ANKRD11 intragenic duplication. (a) Relative expression of ANKRD11 mRNA in lymphocytes of the patients’ mother (pink), male patient (blue), and female patient (lilac), compared to a pool of 10 normal controls (gray), whose value was set to 1, using Taqman probes for exon junctions 2–3, 7–8, and 12–13. *, p < 0.01. (b) Graphic representation of wild-type and mutated ANKRD11 mRNAs and corresponding proteins. Non-coding exons are in pink, and coding exons in light pink. Gray arrows show the duplication of exons 3–8, oriented in tandem. Black arrows indicate positions of primers used to sequence the duplication junction. The electropherogram of the mutant ANKRD11 transcript is shown, with exon 8 in yellow and exon 3 in blue; the amino-acid sequence is above the nucleotide sequence. Juxtaposition of exon 3 with exon 8 creates a premature termination codon. GenBank accession numbers of the splice-variant transcripts are KM670019 and KM670020. The truncated protein translated from the mutant ANKRD11 transcript is shown at bottom.