Fig. 4.

Characterization of the recurrent intragenic deletion of PIGN identified in patients from La Réunion. a Prediction of a deletion-spanning exons 5–7 of PIGN using the XHMM software in whole-exome sequencing data of patient 1 (red line). Note the presence of a similar deletion in another patient, also from La Réunion island, present in the heterozygous state (gray line). b Direct PCR amplification of a deletion-spanning product from genomic DNA in family 1, demonstrating the presence of a homozygous deletion of PIGN, with a size of ~5.0 kb. c Direct PCR amplification of exons 6 and 7 for patient 3 and her parents from family 2, consistent with a homozygous deletion in patient 3. A PCR product from TBC1D24 was taken as a positive control for this experiment. d Direct Sanger sequencing of the deletion breakpoints, defining the precise genomic co-ordinates of the deletion in patient 1