ArticleClinical genetics2026
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.
Lucía Miranda-Alcaraz, Simone Carbonera, Mónica Mora-Gómez, Natalia Gallego-Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez-Amell, Mario Cazalla and 14 more
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In one paragraphArticle in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
24 authors.
Lucía Miranda-AlcarazInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0009-0005-6986-6317 Mónica Mora-GómezInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0009-0005-6448-1362 Natalia Gallego-ZazoInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0000-0002-7523-1474 Inmaculada GuillénPediatric Cardiology Unit, Department of Pediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Elena PadillaPediatric Cardiology Unit, Department of Pediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Alessia AsaroNeurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Valeria Vásquez-AmellInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0000-0001-5067-3236 Mario CazallaInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0009-0007-1931-0390 Manuel Rodríguez-CanóInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0009-0001-6057-2567 Cristina SilvánInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.
Pedro AriasInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.
Juan Andrés Jiménez-EstradaInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0000-0001-9584-8335 Tomás ValleInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0009-0009-1533-404X María Jesús Del Cerro MarínUnidad de Hipertensión Pulmonar Pediátrica, Servicio de Cardiología Pediátrica, Hospital Universitario Ramón y Cajal, Instituto de Investigación Biomédica del Hospital Universitario Ramón y Cajal (Irycis), Madrid, Spain.
Julián NevadoInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0000-0001-5611-2659 Spanish PAH ConsortiumCIBERER, Centro de Investigación Biomédica de Enfermedades Raras en Red, Instituto de Salud Carlos III, Madrid, Spain.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.
Jair Tenorio-CastanoInstituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPaz), Hospital Universitario La Paz, Madrid, Spain.ORCID https://orcid.org/0000-0002-5308-2316 Funding
Fundación Contra la Hipertensión Pulmonar PASION-HPInstituto de Salud Carlos III JR23/00071Instituto de Salud Carlos III PI21/01593Instituto de Salud Carlos III PI21/01690Instituto de Salud Carlos III PI24/01084Instituto de Salud Carlos III PMP22/00049PASION-HP-Fundación contra la Hipertensión Pulmonar and Universidad Autónoma de MadridUniversidad Autónoma de Madrid
6 · The paper itselfAbstract
Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X-linked dominant disorder historically considered lethal in males, with milder presentations now recognized as PORCN non-Goltz spectrum (PONGOS). We report three male patients identified by exome sequencing: one with a mosaic de novo variant (c.727C>T; p.Arg243*) showing FDH features, and two siblings with an inherited non-mosaic variant (c.1315T>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-mosaic PORCN 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.
Indexed as
Focal Dermal HypoplasiaMembrane ProteinsAcyltransferasesExome SequencingHumansMaleMosaicismMutationPedigreePhenotypeAcyltransferasesMembrane ProteinsPORCN protein, humanfocal dermal hypoplasiagenomic medicineGoltz syndromePONGOSPORCN
Identifiers
PMID42575871
PMCPMC13631073
What Socratic holds
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