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This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care. Our study cohort includes 10 Tunisian patients with EB whose genetic profiles were investigated by exome sequencing. In silico analysis was conducted to determine the functional impact of three novel variants. We revealed ten genetic variants, including three novel ones within the <jats:italic>COL7A1<\/jats:italic> and <jats:italic>DST<\/jats:italic> genes. The in silico analysis shed light on the potential structural and functional implications of these novel variants. By establishing the correlation between clinical features and genetic alterations, we have expanded the existing database of disease\u2010causing variants associated with EB in Northern Africa. Our study fills a critical knowledge gap in the North African context, where the scarcity of clinical database and genetic testing in addition to the genetic diversity necessitates comprehensive research. Our findings have the potential to improve diagnosis and management strategies for EB patients in low and middle\u2010income countries across the region, especially through the integration of exome sequencing and in silico analysis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63967","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T11:04:39Z","timestamp":1734433479000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5581-8078","authenticated-orcid":false,"given":"Haifa","family":"El Mabrouk","sequence":"first","affiliation":[{"name":"Higher Institute of Biotechnology of Monastir University of Monastir  Monastir Tunisia"},{"name":"Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology Farhat Hached University Hospital, University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houcemeddine","family":"Othman","sequence":"additional","affiliation":[{"name":"Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology Farhat Hached University Hospital, University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lobna","family":"Boussofarra","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Ibn El Jazzar University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moez","family":"Gribaa","sequence":"additional","affiliation":[{"name":"Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology Farhat Hached University Hospital, University of Sousse  Sousse Tunisia"},{"name":"Faculty of Medicine Ibn El Jazzar University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Saad","sequence":"additional","affiliation":[{"name":"Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology Farhat Hached University Hospital, University of Sousse  Sousse Tunisia"},{"name":"Faculty of Medicine Ibn El Jazzar University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Denguezli","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Ibn El Jazzar University of Sousse  Sousse Tunisia"},{"name":"Department of Dermatology and Venerology, Farhat Hached University Hospital University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-507X","authenticated-orcid":false,"given":"Cristina","family":"Has","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venerology Medical Center University of Freiburg  Freiburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorra","family":"H'mida","sequence":"additional","affiliation":[{"name":"Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology Farhat Hached University Hospital, University of Sousse  Sousse Tunisia"},{"name":"Faculty of Medicine Ibn El Jazzar University of Sousse  Sousse Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpbi.27.Searching"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/0189\u20106725.78673"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010020\u20100210\u20100"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403\u2010013\u20101421\u2010y"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12645"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajhb.22764"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.1550"},{"issue":"1","key":"e_1_2_11_10_1","first-page":"53","article-title":"Hereditary Epidermolysis Bullosa in Tunisia: An Epidemio\u2010Clinical and Ultrastructural Study","volume":"82","author":"Cherif F.","year":"2005","journal-title":"Archives de l'Institut Pasteur de Tunis"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0267084"},{"issue":"4","key":"e_1_2_11_12_1","first-page":"671","article-title":"Glycine Substitutions in the Triple\u2010Helical Region of Type VII Collagen Result in a Spectrum of Dystrophic Epidermolysis bullosa Phenotypes and Patterns of Inheritance","volume":"58","author":"Christiano A. 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