Fig. 1

Molecular analysis of the father-to-daughter inheritance of IP in the study case. A Diagram of the quantitative MLPA results. Genomic regions are displayed on the x-axis, whereas the y-axis indicates the ratio to a normal female. The genomic positions of the probes are provided in the instruction manual of the MLPA kit (SALSA P073-A1, MRC-Holland). B Schematic depiction of the location of the deletion relative to the IKBKG gene and IKBKGP pseudogene. The red arrow indicates the deleted region in the study patient. The cyan arrow indicates AluSx1, and the yellow arrow denotes AluY. Black arrowheads indicate segmental duplications. AluSx1, GRCh38/hg38 chrX:154554478–154,554,769; AluY, 154,648,589–154,648,883; IKBKG: 154547620–154,565,033; IKBKGP1: 154639978–154,648,275; deletion: 154554588–154,648,697. C Electropherogram of the HUMARA assay. HpaII undigested (left) and digested (right) PCR products from the patient and her parents are shown. (Above) The red arrowhead indicates the maternal allele, and the cyan arrowhead denotes the paternal allele. (Middle) The father’s X chromosome allele. (Bottom) The mother’s two alleles. D Deletion-specific PCR. P, proband; M, mother of the affected proband; F, father of the affected proband; DW, distilled water; L, 1 kb ladder plus (Invitrogen). The red arrowhead indicates a nested PCR product. E Deletion junction sequence. The green and orange characters indicate the upstream and downstream Alu elements, respectively. The purple character sequences indicate an identical 16 nucleotides. Gray character sequences indicate the region deleted in the variant