Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
J. Clin. Invest. Anna M.G. Pasmooij, et al. 117:1240 doi:10.1172/JCI30465 [Go to this article.]

Figure 8
Effects of second-site mutations at the mRNA level (patient 029-01). Oligonucleotide primers were similar to those described in Figure 5. A normal human control sample shows the expected 269-bp product (lane 6). The affected skin sample contained 3 additional smaller fragments due to the c.628G→A transition (lanes 1–4 and Figure 5B, c–e). The revertant keratinocytes of biopsy I (R) with the secondary c.619A→C mutation (lane 1) produced more full-length mRNA transcript and fewer 64 and 66 bp–deleted transcripts than mutant keratinocytes (lane 5). This is also seen in the revertant keratinocytes from biopsy II (R) (lane 2) and biopsy III (R) (lane 3) containing the additional c.565-3T→C mutation. In contrast, the revertant keratinocytes of biopsy IV (R) with the second-site c.629-1G→A mutation had a greater abundance of the transcript with the 66-bp deletion (lane 4). Lane M contains a 100-bp molecular size marker and lane 7 a negative control.