Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.

[dystrophic epidermolysis bullosa]

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 (COL 7 A 1 ) gene have been identified . We analyzed mutations in the COL 7 A 1 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 COL 7 A 1 were detected by polymerase chain reaction and direct sequencing . We identified one novel heterozygote mutation (c .6842 G >T , p .G 2281 V ) and a second mutation (c .5443 G >A , p .G 1815 R ) reported previously in patients with DEB . Our findings contribute to the COL 7 A 1 mutation database and further reveal the genetic and phenotypic heterogeneity of DEB-Pr .

Diseases
Validation

Diseases presenting "mutations in the type vii collagen alpha 1 (col7a1) gene" symptom

dystrophic epidermolysis bullosa

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