Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1

作者：Mandi Zhou, Zhixin Zheng, Jinglei Teng, Chao Yang, Ming Zeng · 发表于：Skin Research and Technology · 年份：2024 · DOI：10.1111/srt.13779 · 研究领域：Skin and Cellular Biology Research、Cell Adhesion Molecules Research、Connective tissue disorders research

To the Editor, There is a broad phenotypic and severity spectrum in dystrophic epidermolysis bullosa (DEB) caused by COL7A1 mutation, and the expression level and residual function of COL7A1 in patients with DEB are inversely correlated with phenotypic severity.1, 2 To date, there are more than 800 mutations in DEB.3 Here, we report two young sisters with two novel heterozygous variants which had not been previously reported, presenting with clinical phenotype of recessive DEB (RDEB), localized. The proband was a 20-year-old Chinese female. She suffered a 20-year history of intense cutaneous pruritus, skin blistering, erosion, and ulceration on her hands and feet, alongside dystrophy of nails since infancy. Her younger sister had similar experiences, with very mild involvement of her elbows and lower limbs. They were born during a normal pregnancy and delivery with non-consanguineous parents, and both had normal physical development without obvious mucous membrane affected. They had no family history of any bullous disorders. Physical examination demonstrated that their scattered lesions were mainly distributed on the distal end of the limb, and nail dystrophy or even absence were observed (Figure 1). Whole-exome sequencing was performed in the sisters and their parents to detect the underlying genetic variants in COL7A1 gene using the genomic DNA extracted from their peripheral blood after obtaining informed consent. The entire coding region and the adjacent splice site regi...