Fig. 2

Results of MLPA analysis in FBP1 deficiency. Results are shown for a control sample (a), patient 2 (b), patient 12 (c), and patient 13 (d). For patient details see Table 1. Each panel shows the results for the intensity of probe amplification for the eight exons of FBP1. Patients’ results are depicted in green bars, while means (± SD) of concomitantly measured controls are shown in blue. The presentation below these bars shows the deviation of patients’ results as a percentage of control with the dotted line representing 0, and the horizontal red bars −25 %, +25 %, and +50 %, respectively. Note the missing probe amplification for exon 2 in patient 2 which is in line with homozygosity for the novel exon 2 deletion. Patient 12 shows a signal intensity for exon 8 of approximately 50 % suggesting heterozygosity for a deletion. In patient 13, signal intensities for all 8 exons are reduced to approximately 50 % of controls suggesting heterozygosity for a deletion of the entire FBP1 gene