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

This article reports on two sisters with recessive dystrophic epidermolysis bullosa (RDEB) caused by novel variants in the COL7A1 gene. The sisters experienced symptoms such as intense cutaneous pruritus, skin blistering, erosion, and ulceration on their hands and feet, as well as nail dystrophy. Whole-exome sequencing revealed two heterozygous variants in COL7A1, which were inherited from their parents and segregated with the phenotype in the family. These variants were classified as uncertain significance but were believed to affect the fibronectin III-like domains in the NC-1 domain of the protein, resulting in a milder phenotype. This study contributes to the understanding of genotype-phenotype correlation in RDEB. [Extracted from the article]

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