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  • Title: Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Author: Zhu KJ, Zhu CY, Zhou Y, Fan YM.
    Journal: Genet Mol Res; 2014 Sep 12; 13(3):7587-92. PubMed ID: 25222259.
    Abstract:
    Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB). This disease is characterized by severe itching, lichenoid nodules or prurigo-like lesions, and linear scarring with a predilection for the extensor limbs. Pathogenic mutations in the type VII collagen alpha 1 (COL7A1) gene have been identified. We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEB-Pr and in a patient previously reported with sporadic DEB-Pr. The entire coding region and exon-intron boundaries of COL7A1 were detected by polymerase chain reaction and direct sequencing. We identified one novel heterozygote mutation (c.6842G>T, p.G2281V) and a second mutation (c.5443G>A, p.G1815R) reported previously in patients with DEB. Our findings contribute to the COL7A1 mutation database and further reveal the genetic and phenotypic heterogeneity of DEB-Pr.
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