Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
The identification of this unique RDEB subpopulation unified by the single most prevalent c.6527insC mutation holds great potential to facilitate promising new RDEB therapies using CRISPR Cas 9 gene and base editing. The identification of a single guide RNA allowing efficient and safe editing of this variant would represent a unique drug to treat a large cohort of patients with the same founder mutation.
Authors
- Francis Palisson (ORCID: https://orcid.org/0000-0001-9196-841X)
- Paul Maier (ORCID: https://orcid.org/0000-0001-6606-3926)
- Ganna Bilousova (ORCID: https://orcid.org/0000-0003-2453-8342)
- Nuria Illera (ORCID: https://orcid.org/0000-0003-2409-5393)
- Adam R. Brown (ORCID: https://orcid.org/0000-0003-2275-9328)
- Graciela Manzur (ORCID: https://orcid.org/0000-0002-0431-0650)
- Marcela Del Río (ORCID: https://orcid.org/0000-0003-2910-7189)
- Fernando Larcher (ORCID: https://orcid.org/0000-0002-6771-3561)
- Anthony E. Oro (ORCID: https://orcid.org/0000-0002-6261-138X)
- Jean Y. Tang (ORCID: https://orcid.org/0000-0002-5510-6502)
- Anna L. Bruckner (ORCID: https://orcid.org/0000-0002-2035-4127)
- Ignacia Fuentes (ORCID: https://orcid.org/0000-0002-8987-1317)
- Igor Kogut
- Matthias Titeux (ORCID: https://orcid.org/0000-0001-7386-2769)
- Liliana Consuegra
- Almudena Holguín
- Emily Warshauer (ORCID: https://orcid.org/0000-0002-4055-5196)
- Maria Jose Escamez (ORCID: https://orcid.org/0000-0002-5434-1885)
- Laura Valinotto (ORCID: https://orcid.org/0000-0001-8723-5483)
- Mónica Natale (ORCID: https://orcid.org/0000-0002-8197-6819)
- Garrett Hellenthal (ORCID: https://orcid.org/0000-0002-5760-8020)
- Dennis R. Roop (ORCID: https://orcid.org/0000-0001-5868-5880)
- A. Hovnanian
- Göran Runfeldt (ORCID: https://orcid.org/0000-0002-1313-3123)
- Ángeles Mencía (ORCID: https://orcid.org/0000-0002-9977-9514)
- Inês Nogueiro (ORCID: https://orcid.org/0000-0001-8799-8376)
- Karl Skorecki (ORCID: https://orcid.org/0000-0002-0900-3406)
- Marta García (ORCID: https://orcid.org/0000-0001-8598-8537)
- David A. Norris (ORCID: https://orcid.org/0000-0001-7481-737X)
- Carolina Rivera
- Eli Sprecher
- Peter Marinkovich
Institutions
- Universidad del Desarrollo (CL)
- Inserm (FR)
- Pontificia Universidad Católica de Chile (CL)
- Tel Aviv University (IL)
- Technion – Israel Institute of Technology (IL)
- Universidade do Porto (PT)
- Université Paris Cité (FR)
- Fundación Chile (CL)
- Tel Aviv Sourasky Medical Center (IL)
- Hospital for Sick Children Pediatric Center (US)
- Gene Therapy Laboratory (FR)
- Centro Científico Tecnológico - San Juan (AR)
- Fundación Cardiovascular de Colombia (CO)
- Assistance Publique – Hôpitaux de Paris (FR)
- Rappaport Family Institute for Research in the Medical Sciences (IL)
- Unidades Centrales Científico-Técnicas (ES)
- Hospital de Clínicas "José de San Martín" (AR)
- Fundación Neumológica Colombiana (CO)
- Fundación Santa Fe de Bogotá (CO)
- Center for the Study of State and Society (AR)
- Institute of Genetics and Cancer (GB)
- Instituto de Investigación de Enfermedades Raras (ES)
- Human Genetic of Infectious Diseases (FR)
- Institut des Maladies Génétiques Imagine (FR)
- Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (ES)
- Adult and Pediatric Dermatology (US)
- University College London (GB)
- Universidad Carlos III de Madrid (ES)
- University of Colorado Anschutz Medical Campus (US)
- Howard Payne University (US)
- Universidad del Rosario (CO)
- Stanford University (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1136/jmg-2025-110967
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00