{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:14:04Z","timestamp":1760058844415,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T00:00:00Z","timestamp":1745884800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"DEBRA Austria","award":["NMRC\/CG\/006\/2021"],"award-info":[{"award-number":["NMRC\/CG\/006\/2021"]}]},{"name":"DEBRA Chile","award":["NMRC\/CG\/006\/2021"],"award-info":[{"award-number":["NMRC\/CG\/006\/2021"]}]},{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/CG\/006\/2021"],"award-info":[{"award-number":["NMRC\/CG\/006\/2021"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient\u2019s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype\u2013phenotype correlations.<\/jats:p>","DOI":"10.3390\/ijms26094237","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T11:00:54Z","timestamp":1745924454000},"page":"4237","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions"],"prefix":"10.3390","volume":"26","author":[{"given":"Alfred","family":"Klausegger","sequence":"first","affiliation":[{"name":"EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Leditzky","sequence":"additional","affiliation":[{"name":"EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8510-4022","authenticated-orcid":false,"given":"Susanne","family":"Kr\u00e4mer","sequence":"additional","affiliation":[{"name":"Special Care Clinic, Universidad de Chile, Olivos 943, Independencia, Santiago 8380544, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis","family":"Palisson","sequence":"additional","affiliation":[{"name":"Servicio de Dermatolog\u00eda, Facultad de Medicina Cl\u00ednica Alemana, Universidad del Desarrollo, Santiago 7591538, Chile"},{"name":"DEBRA Chile, Santiago 8580670, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Joao","family":"Yubero","sequence":"additional","affiliation":[{"name":"DEBRA Chile, Santiago 8580670, Chile"},{"name":"Pediatrics and Pediatric Infectious Diseases of Cl\u00ednica Alemana, Facultad de Medicina Alemana, Universidad del Desarrollo, Santiago 7591538, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebasti\u00e1n","family":"V\u00e9liz","sequence":"additional","affiliation":[{"name":"Special Care Clinic, Universidad de Chile, Olivos 943, Independencia, Santiago 8380544, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark Jean Aan","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, KK Women\u2019s and Children\u2019s Hospital, Singapore 229899, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6058","authenticated-orcid":false,"given":"Ene-Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"Research Center, KK Women\u2019s and Children\u2019s Hospital, Singapore 229899, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Laimer","sequence":"additional","affiliation":[{"name":"EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"},{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6085-9170","authenticated-orcid":false,"given":"Johann Wolfgang","family":"Bauer","sequence":"additional","affiliation":[{"name":"EB House Austria, Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"},{"name":"Department of Dermatology and Allergology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8987-1317","authenticated-orcid":false,"given":"Ignacia","family":"Fuentes","sequence":"additional","affiliation":[{"name":"DEBRA Chile, Santiago 8580670, Chile"},{"name":"Centro de Gen\u00e9tica Y Gen\u00f3mica, Facultad de Medicina Cl\u00ednica Alemana, Universidad de Desarrollo, Santiago 7610658, Chile"},{"name":"Facultad de Ciencias Biol\u00f3gicas, Pontificia Universidad Cat\u00f3lica de Chile, Santiago 8320165, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/j.1365-2133.1954.tb12598.x","article-title":"Congenital Poikiloderma with Traumatic Bulla Formation and Progressive Cutaneous Atrophy","volume":"66","author":"Kindler","year":"1954","journal-title":"Br. 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