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Although features of TSC have been described in various populations, genetic data from Egypt remain scarce. This study aimed to characterize the phenotypic and molecular features of TSC among a cohort of Egyptian patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This observational study included patients clinically diagnosed with TSC at two Egyptian centers between 2022 and 2025. All participants underwent a comprehensive evaluation, including demographic profiling, clinical assessment, imaging studies, and whole-exome sequencing. Identified\n                      <jats:italic>TSC1<\/jats:italic>\n                      and\n                      <jats:italic>TSC2<\/jats:italic>\n                      variants were cross-referenced with public databases, analyzed using bioinformatics tools, and classified according to the American College of Medical Genetics and Genomics guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The cohort contained 23 cases from 20 unrelated families (16 males and 7 females; median age: 8.1 years). Parental consanguinity and positive family history were present in 13 and 12 cases, respectively. The median age at initial presentation was 8 months (interquartile range: 3\u201324 months). Patients exhibited various manifestations, including hypomelanotic macules (100%), cortical tubers (96%), seizures (87%), TSC-associated neuropsychiatric disorders (78%), facial angiofibromas (65%), shagreen patches (48%), renal angiomyolipomas (44%), and cardiac rhabdomyomas (39%). Eighteen distinct variants were identified (16 in\n                      <jats:italic>TSC2<\/jats:italic>\n                      , 2 in\n                      <jats:italic>TSC1<\/jats:italic>\n                      ), including nine novel variants. These comprised nine deletions\/insertions, five splice-site, three nonsense, and one missense variant. Most variants (89%) were \u201cprivate\u201d, each observed in a single family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study provides the first comprehensive genetic analysis of TSC in Egypt. The findings expand the demographic, phenotypic, and genetic spectrum of TSC in an underrepresented population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12887-026-07095-9","type":"journal-article","created":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T00:34:33Z","timestamp":1781051673000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex"],"prefix":"10.1186","volume":"26","author":[{"given":"Amr A.","family":"Othman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelrahim A.","family":"Sadek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Aladawy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shereen Philip","family":"Aziz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Sedky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek M.M.","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed M.S.","family":"Younis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania G.","family":"Abdelatif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abd El-Monem M.","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa Ali","family":"Aboelmagd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kawashty R.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma Mohamed","family":"Elkousy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada M.","family":"Montaser Elkady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rin","family":"Khang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung Woo","family":"Ryu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8976-2989","authenticated-orcid":false,"given":"Elsayed","family":"Abdelkreem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,10]]},"reference":[{"key":"7095_CR1","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","volume":"123","author":"H Northrup","year":"2021","unstructured":"Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, De Vries PJ, et al. 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