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 7
The inherited homozygous c.628G→A mutation was present in 029-01 proband’s keratinocytes with normal (A–C) as well as reduced (D) LM-332 staining. (A) In biopsy I (R), a second-site mutation, c.619A→C;p.K207Q, was present in exon 7. Biopsy III (R) had an additional substitution, c.565-3T→C, in the 3ι splice site of intron 6 (B) and biopsy IV (R) an additional c.629-1G→A change in the 3ι splice site of intron 7 (C). (D) None of these additional substitutions were seen in LDM-isolated mutant keratinocytes. Red arrows indicate the inherited mutation, and green arrows the second-site mutations. Amino acid sequences are indicated above the nt sequences.