Figure 1.

Identification of a new homozygous structural variant in a biochemically diagnosed patient with dihydropteridine reductase (DHPR) deficiency: a 9 Mb inversion between 4p16.1 and 4p15.32. (a) Chromosome 4 ideogram. The described 9‐Mb inversion is marked by the red box. (b) Scheme of the inversion in the context of ACOX3 and QDPR genes. F1, R1, F2, R2 schematically represent the PCR primer design relative to the reference (WT) genome. (c) The aligned sequencing reads around detected breakpoints BP1 and BP2 visualized using The Integrative Genomics Viewer (IGV). Soft‐clipped nucleotides are highlighted and nucleotides shown. (d) Validation studies confirming the variant by PCR using primers F1‐R1 and F1‐F2. C—child, M—mother, F—Father, WT—wild‐type control