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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Fan, Y. M. Zhu, C. Y. Zhou, Y. Zhu, K. J. |
| Description | Country affiliation: China Author Affiliation: Zhu KJ ( Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.); Zhu CY ( Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.); Zhou Y ( Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China.); Fan YM ( Department of Dermatology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong, China ymfan1963@163.com.) |
| 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. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 3 |
| Volume Number | 13 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Date | 2014-09-12 |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Collagen Type Vii Genetics Epidermolysis Bullosa Dystrophica Pathology Mutation Adolescent Dna Mutational Analysis Diagnosis Exons Heterozygote Pedigree Phenotype Skin Research Support, Non-u.s. Gov't Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article Case study |
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