Fig. 2: Clinical and molecular presentations of Pat.57 with COL17A1 c.4156+117 G > A variant. | npj Genomic Medicine

Fig. 2: Clinical and molecular presentations of Pat.57 with COL17A1 c.4156+117 G > A variant.

From: Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Fig. 2

a Pat.57 with COL17A1 variants presented with mild alopecia, nail dystrophy, disseminated tense blisters and erosions on the erythema and skin healing with dyspigmentation. b Family pedigree of Pat.57. c Sanger sequencing showed the Pat.57 carried the COL17A1 c.4156+117 G > A variant (arrow) inherited from her father. d Other than the normal allele (lane 2), two smaller-than-normal fragments (M1 and M2) in the c.4156+117 G > A-allele (lane 3). Sanger sequencing of subcloned RT-PCR products revealed the 849 bp band resulted from skipping 103 bp at the 5´splice site of exon 53. The relatively weak M2 562 bp band completely missed the exon 52. e Immunohistochemistry staining of the skin demonstrates decreased collagen XVII (COL17A1) in Pat.57, in contrast to the linear pattern at the dermal–epidermal junction in the control skin (upper panel). Transmission electron microscopy (TEM) examination revealed that the hemidesmosomes (Red arrow) were poorly developed (lower panel). Note a junctional level of skin cleavage (Green arrow) in Pat.57.

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