ArticleMolecular therapy. Nucleic acids2019
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Article in Molecular therapy. Nucleic acids, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.International journal of molecular sciences · 2025Article
- EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.Molecular neurobiology · 2025Article
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- Treatment of Epidermolysis Bullosa and Future Directions: A Review.Dermatology and therapy · 2024Review
- Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing.Experimental and therapeutic medicine · 2023Article
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.Nucleic acid therapeutics · 2022Article
- A perspective on oligonucleotide therapy: Approaches to patient customization.Frontiers in pharmacology · 2022Review
- In Vitro Models for the Evaluation of Antisense Oligonucleotides in Skin.Methods in molecular biology (Clifton, N.J.) · 2022Article
- In Vivo Models for the Evaluation of Antisense Oligonucleotides in Skin.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.International journal of molecular sciences · 2021Review
- Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option forInternational journal of molecular sciences · 2021Article
- Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.Dermatology and therapy · 2021Review
- Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.International journal of molecular sciences · 2021Article
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome inInternational journal of molecular sciences · 2020Article
- Epidermolysis bullosa.Nature reviews. Disease primers · 2020Review
- Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.Molecular diagnosis & therapy · 2020Review
- Power and Promise of Next-Generation Sequencing in Liquid Biopsies and Cancer Control.Cancer control : journal of the Moffitt Cancer CenterReview
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively. Recently, promising proof-of-principle has been shown for antisense oligonucleotide (AON)-mediated exon skipping as a therapeutic approach for DEB. However, the precise phenotypic effect to be anticipated from exon skipping, and which patient groups could benefit, is not yet clear. To answer these questions, we studied new clinical and molecular data on seven patients from the Dutch EB registry and reviewed the literature on COL7A1 exon skipping variants. We found that phenotypes associated with dominant exon skipping cannot be distinguished from phenotypes caused by other dominant DEB variants. Recessive exon skipping phenotypes are generally relatively mild in the spectrum of recessive DEB. Therefore, for dominant DEB, AON-mediated exon skipping is unlikely to ameliorate the phenotype. In contrast, the overall severity of phenotypes associated with recessive natural exon skipping pivots toward the milder end of the spectrum. Consequently, we anticipate AON-mediated exon skipping for recessive DEB caused by bi-allelic null variants should lead to a clinically relevant improvement of this devastating phenotype.
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