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- W4366171888 abstract "Recessive epidermolysis bullosa (RDEB) is subdivided into six clinical subtypes. Among them, patients with severe RDEB present generalized blisters that cause progressive scarring and digit fusion, and have a poor prognosis due to aggressive squamous cell carcinoma. The clinical manifestations of intermediate RDEB are milder and its prognosis is better. In this study, we describe two patients with the intermediate RDEB phenotype who harbored the previously unreported COL7A1 mutation c.3570G>A. Because this variant is located in the middle of exon 27 and is not predicted to result in substitution of amino acid (p.L1190=), it could be regarded as a non-pathogenic variant. However, RT-PCR using mRNA obtained from peripheral blood mononuclear cells (PBMCs) detected two bands for this mutation, one of normal size and one that was shorter. Direct sequencing of the shorter band revealed that the mutation caused an activated cryptic splice site in exon 27. This resulted in an in-frame deletion of the first seven amino acids of exon 27 (p.L1185_G1191del). The other mutation was splice site mutation which leads to a premature termination codon (PTC) in both cases. Mutational analysis of COL7A1 shows that most patients with severe RDEB harbor mutations that cause PTCs on both alleles with subsequent marked reduction or complete loss of type VII collagen expression. Patients with intermediate RDEB exhibit type VII collagen expression but at reduced levels, because non-PTC-causing mutations are generally present in at least one allele. In the present study, therefore, the presence of the non-PTC-causing mutation c.3570G>A in one allele and a PTC-causing mutation in the other allele contributed to the mild clinical phenotype in both cases. In addition, RT-PCR and direct sequencing of mRNA obtained from PBMCs accurately revealed the consequences of COL7A1 mutations. This is a useful and non-invasive methods that can accurately confirm the consequences of pathogenic mutations in patients with RDEB." @default.
- W4366171888 created "2023-04-19" @default.
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- W4366171888 date "2023-05-01" @default.
- W4366171888 modified "2023-09-28" @default.
- W4366171888 title "816 A novel COL7A1 mutation c.3570G>A resulted in relatively mild clinical phenotype of recessive dystrophic epidermolysis bullosa" @default.
- W4366171888 doi "https://doi.org/10.1016/j.jid.2023.03.826" @default.
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