Fig. 4

Examples of genetic diagnosis obtained by NGS data re-analysis. Chromatograms and family tree of 2 patients where a causative variant was identified by NGS data re-analysis and validated by Sanger sequencing and family segregation study. Proband had a de novo heterozygous variant in PBX1, as shown by a double peak in the Sanger electropherogram of the proband, while both parents were wild-type (a). Proband had a heterozygous missense variant in CDKN1C, as shown by a double peak in the Sanger electropherogram, which was inherited from the mother (b). Asterisk indicates the nucleotide affected. WT: wild-type