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We report three male patients identified by exome sequencing: one with a mosaic de novo variant (c.727C&gt;T; p.Arg243*) showing FDH features, and two siblings with an inherited non\u2010mosaic variant (c.1315T&gt;G; p.Trp439Gly) from their unaffected carrier mother with a PONGOS phenotype. These cases confirm that male survival is possible with both mosaic and non\u2010mosaic\n                    <jats:italic>PORCN<\/jats:italic>\n                    variants and expand the clinical and molecular spectrum of the disease. Our findings highlight the role of residual protein function in clinical variability and have important implications for diagnosis, genetic counseling, and management in families with apparently unaffected carrier mothers.\n                  <\/jats:p>","DOI":"10.1111\/cge.70228","type":"journal-article","created":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T02:28:10Z","timestamp":1786415290000},"page":"605-615","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Surviving Males With\n                    <scp>\n                      <i>PORCN<\/i>\n                    <\/scp>\n                    Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6986-6317","authenticated-orcid":false,"given":"Luc\u00eda","family":"Miranda\u2010Alcaraz","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), Instituto de Investigaci\u00f3n del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz  Madrid Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III  Madrid Spain"},{"name":"ERN\u2010ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro\u2010Developmental Disorders  Paris France"},{"name":"Escuela de Doctorado Universidad Aut\u00f3noma de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8705-7071","authenticated-orcid":false,"given":"Simone","family":"Carbonera","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia 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