The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey

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  Fig. 1. The identification of a de novo PRKACA duplication on chromosome 19 at band p13.12.A Screen shot from the Integrated Genome Viewer (IGV) of chromosome 19, showing in the upper half of the figure a tandem duplication of 290 kb at 19p13.12 detected in genome sequencing data, containing the PRKACA gene (within in the red square), in the proband. The proband’s parents, were tested negative for this 19p13.12 duplication based on CNV in WES data analysis as shown in the lower half of the figure. On the Y-axis is the relative score for each target that is determined after comparing each target value with the average from a reference pool (test over reference ratio). Target values > 0 are in red and target value < 0 in blue. A normal copy number of 2 falls within a range between − 0.4 and 0.4 for genome sequencing calls and between − 1.6 and 1.6 for exome sequencing calls. A value > 0.4 respectively 1.6 indicates a copy number gain, a value < -0.4 respectively − 1.6 indicates a copy number loss. In the middle part of the figure there is no coverage, because this is the centromeric region of chromosome 19 that does not have unique sequences. In the long am of chromosome 19 a common,…