ArticleActa dermato-venereologica2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Article in Acta dermato-venereologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa.Iranian biomedical journal · 2026Article
- Dominant Dystrophic Epidermolysis Bullosa withMolecular syndromology · 2026Article
- Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.International journal of molecular sciences · 2025Article
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.NPJ genomic medicine · 2025Article
- A novel variant c.A527G inFrontiers in medicine · 2025Article
- Article
- Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing.Experimental and therapeutic medicine · 2023Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Human mutation · 2022Article
- Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Molecular genetics & genomic medicine · 2022Article
- Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum ofFrontiers in genetics · 2022Article
- Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2021Article
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9 authors at 2 institutions in 1 country.
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Abstract
Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC; one case of junctional epidermolysis bullosa carried mutations in ITGB4; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1. The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.
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