title: Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
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.
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.
authors.forename: K J
authors.initials: KJ
authors.lastname: Zhu
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Zhu
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China ymfan1963@163.com.
authors.forename: Y M
authors.initials: YM
authors.lastname: Fan
mesh_terms: D000293:Adolescent; D000328:Adult; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII