Fig. 2

Exon skipping caused by the c.975-2A > C mutation. a RT-PCR results for exons 6–9 of FOXP1 mRNA for blood-derived RNA for individual S1 and her parents. The upper band is the PCR amplicon resulting from the mRNA with exons 7 (blue), 8 (black), and 9 (purple); the lower band results from skipping of exon 8. b Sanger sequencing results of the PCR amplicons obtained in a. The nucleotide of the splice site mutated is indicated on the pre-mRNA in red. Exon numbering was annotated against NM_001244812. The indicated exon 8 corresponds to coding exon 8 in NM_032682.5 (exon 13 if including non-coding exons)