{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T17:04:22Z","timestamp":1766423062040,"version":"3.48.0"},"reference-count":17,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T00:00:00Z","timestamp":1764028800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Objective: Somatic mosaic activating PIK3CA variants are a well-established cause of segmental overgrowth phenotypes, whereas germline PIK3CA variants are rare and clinically heterogeneous. We report 2 unrelated patients \u2013 1 with a somatic mosaic and 1 with a de novo germline PIK3CA variant \u2013 with longitudinal clinical follow-up. Case Presentation: Patient 1 carried NM_006218.4:c.1412C&gt;T; p.(Pro471Leu) in the C2 domain and presented with macrocephaly, generalized overgrowth, epilepsy, and structural brain anomalies; mosaicism was supported by an attenuated mutant signal on Sanger sequencing. Patient 2 harbored a de novo NM_006218.4:c.323G&gt;A; p.(Arg108His) in the N-terminal p85-binding region and showed macrocephaly, attention-deficit\/hyperactivity disorder, and mitral annular disjunction\/mitral valve prolapse with aortic root dilatation. Conclusion: These 2 cases illustrate PIK3CA-related phenotypes arising from somatic mosaic and germline contexts and document their clinical course over time. Larger, well-characterized cohorts and complementary functional assays are needed to refine genotype-phenotype relationships, inform clinical care, and evaluate targeted therapies.<\/jats:p>","DOI":"10.1159\/000549757","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T17:01:18Z","timestamp":1764090078000},"page":"1-10","source":"Crossref","is-referenced-by-count":0,"title":["PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report"],"prefix":"10.1159","author":[{"given":"Nazli Busra","family":"Acikgoz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damla","family":"Yildiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gizem","family":"Urel-Demir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulen Eda","family":"Utine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin Ozlem","family":"Simsek-Kiper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,11,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac296"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1704560"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.4161\/cc.4.4.1586"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126\/science.1096502"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.845"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-017-0182-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.021"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22933"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/children9050671"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/cjp2.190"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.23006"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.11.023"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-08-0755"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2008.244"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100969"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000549757","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T17:00:45Z","timestamp":1766422845000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000549757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,25]]},"references-count":17,"URL":"https:\/\/doi.org\/10.1159\/000549757","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30704651","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2025,11,25]]}}}