Fig. 4: Molecular presentations of Pat.53 with COL17A1 c.2039-104 G > A variant and Pat. 61 with COL17A1 c.1267+237dupC variant.

a Family pedigree and Sanger sequencing presented the Pat.53 carried the COL17A1 deep intronic variant c.2039-104 G > A (arrow), inherited to her son. b, c Gel loading is as follows: RT-PCR products derived from HaCaT cells transfected with plasmid constructs harboring the wildtype allele of the c.2039-104 G > A variant (lane 2), the mutant allele was shown in lane 3. RT-PCR revealed one product in HaCaT cells transfected with plasmid constructs harboring the wildtype and two products in cells transfected with the c.2039-104 G > A-allele. The larger product comprised a pseudo-exon of 171 bp spliced between exon 25 and 26 while the minor product represented correct splicing of exon 25 to exon 26. d Family pedigree and Sanger sequencing presented the Pat.61 carried the COL17A1 c.1267+237dupC variant. e, f The c.1267+237dupC variant induced in skipping of the exon 16 and exon 17 which was 243 bp smaller than the wildtype allele in HaCaT cells. A weak product corresponding to the correctly processed transcript was also observed in mutant allele. A weak product corresponding to 519 bp transcript was observed in wildtype allele.