Fig. 2

Sanger validation of KIAA1109 mutation in patients and their parents. Figure depicting chromatogram, and sequence alignments of Sanger results of KIAA1109 mutation g.123140678A > G of a F2.IV-2 and his parents and b patients F1.IV-1, F1.IV-2 and F1.IV-2 and their parents (index family). The mutated nucleotides are shown by red arrow (in chromatogram) or marked red (in sequence alignment). Sequence alignments are shown for both forward and reverse strands sequences to depict the homozygosity (in patients) or heterozygosity (in parents). Reverse strand sequences were reverse complemented before alignment