Fig. 1: Clinical and molecular presentations of Pat.13 with LAMB3 5′ untranslated region variant. | npj Genomic Medicine

Fig. 1: Clinical and molecular presentations of Pat.13 with LAMB3 5′ untranslated region variant.

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

Fig. 1

a Pat.13 with LAMB3 variants presented with erythema, scars, scattered haemorrhagic blisters, depigmentation, dyspigmentation and dystrophic nails. b Schematic representation of the 5′ untranslated region (UTR) and the coding sequence (CDS) of LAMB3. The CDS of the LAMB3 gene starts from exon 2 (start codon, ATG) while the 5′ region upstream of exon 2, exon 1 are non-coding (5′ UTR). Purple box: the wild-type exon 1 (ex 1) and exon 2 (ex 2). The point variant (indicated by arrow) is located at the 5′ UTR of LAMB3. Sanger sequencing revealed that the Pat.13 carried the LAMB3 c.-38 + 2 T > C variant (arrow). c Reverse transcriptase polymerase chain reaction (RT-PCR) revealed both one product in HEK293 cells transfected with plasmid constructs harboring the wildtype (lane 2) and the c.-38 + 2 T > C-allele (lane 3). Sanger sequencing of RT-PCR products revealed that the c.-38 + 2 T > C is a splicing variant with in-frameshift pseudo-exon insertion retention of 120 bp intron. d RT-PCR for the Pat.13 derived lymphocyte. No band was detected in Pat.13. Ctrl 1-3, cDNA from the lymphocyte of three unrelated unaffected individual.

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