{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:28:57Z","timestamp":1792985337131,"version":"4.5.0"},"reference-count":29,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:00:00Z","timestamp":1697760000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FISPI21\/01593"],"award-info":[{"award-number":["FISPI21\/01593"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FIS-PI21-01690"],"award-info":[{"award-number":["FIS-PI21-01690"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and\/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH. Here, we report seven additional patients with variants in SOX17 and a review of sixty previously described patients in the literature. Patients described in this study suffered with additional conditions including large septal defects, as described by other groups. Collectively, sixty-seven PAH patients have been reported so far with variants in SOX17, including missense and loss-of-function (LoF) variants. The majority of the loss-of-function variants found in SOX17 were detected in the last exon of the gene. Meanwhile, most missense variants were located within exon one, suggesting a probable tolerated change at the amino terminal part of the protein. In addition, we reported two idiopathic PAH patients presenting with the same variant previously detected in five patients by other studies, suggesting a possible hot spot. Research conducted on PAH associated with congenital heart disease (CHD) indicated that variants in SOX17 might be particularly prevalent in this subgroup, as two out of our seven additional patients presented with CHD. Further research is still necessary to clarify the precise association between the biological pathway of SOX17 and the development of PAH.<\/jats:p>","DOI":"10.3390\/genes14101965","type":"journal-article","created":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T07:22:32Z","timestamp":1697786552000},"page":"1965","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7523-1474","authenticated-orcid":false,"given":"Natalia","family":"Gallego-Zazo","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-6986-6317","authenticated-orcid":false,"given":"Luc\u00eda","family":"Miranda-Alcaraz","sequence":"additional","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3851-4037","authenticated-orcid":false,"given":"Alejandro","family":"Cruz-Utrilla","sequence":"additional","affiliation":[{"name":"Unidad Multidisciplinar de Hipertensi\u00f3n Pulmonar, Servicio de Cardiolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"ERN-LUNG, European Reference Network on Rare Lung Diseases (Pulmonary Hypertension), 60596 Frankfurt am Main, Germany"},{"name":"CIBERCV, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares, Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jes\u00fas","family":"del Cerro Mar\u00edn","sequence":"additional","affiliation":[{"name":"Unidad de Hipertensi\u00f3n Pulmonar Pedi\u00e1trica, Servicio de Cardiolog\u00eda Pedi\u00e1trica, Hospital Universitario Ram\u00f3n y Cajal, Instituto de Investigaci\u00f3n Biom\u00e9dica del Hospital Universitario Ram\u00f3n y Cajal (Irycis), 28034 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"\u00c1lvarez-Fuente","sequence":"additional","affiliation":[{"name":"Unidad de Hipertensi\u00f3n Pulmonar Pedi\u00e1trica, Servicio de Cardiolog\u00eda Pedi\u00e1trica, Hospital Universitario Ram\u00f3n y Cajal, Instituto de Investigaci\u00f3n Biom\u00e9dica del Hospital Universitario Ram\u00f3n y Cajal (Irycis), 28034 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2241-9051","authenticated-orcid":false,"given":"Mar\u00eda","family":"del Mar Rodr\u00edguez V\u00e1zquez del Rey","sequence":"additional","affiliation":[{"name":"Unidad de Cardiolog\u00eda Pedi\u00e1trica, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inmaculada","family":"Guill\u00e9n Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Unidad de Cardiolog\u00eda Pedi\u00e1trica, Hospital Universitario Virgen del Roc\u00edo, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6454-7644","authenticated-orcid":false,"given":"Victor Manuel","family":"Becerra-Munoz","sequence":"additional","affiliation":[{"name":"CIBERCV, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Unidad de Gesti\u00f3n Cl\u00ednica \u00c1rea del Coraz\u00f3n, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de M\u00e1laga, 29590 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Moya-Bonora","sequence":"additional","affiliation":[{"name":"Unidad de Cardiolog\u00eda Pedi\u00e1trica, Departamento de 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Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cazalla","sequence":"additional","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Silv\u00e1n","sequence":"additional","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Arias","sequence":"additional","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and 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Servicio de Cardiolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"ERN-LUNG, European Reference Network on Rare Lung Diseases (Pulmonary Hypertension), 60596 Frankfurt am Main, Germany"},{"name":"CIBERCV, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Cardiovasculares, Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio-Castano","sequence":"additional","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, 28046 Madrid, Spain"},{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras en Red, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ERN-ITHACA, European Reference Network on Rare Malformations Syndromes, Intellectual and Other Neuro-Developmental Disorders, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"170093","DOI":"10.1183\/16000617.0093-2017","article-title":"Pathobiology of pulmonary arterial hypertension: Understanding the roads less travelled","volume":"26","author":"Hemnes","year":"2017","journal-title":"Eur. Respir. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1093\/eurheartj\/ehac237","article-title":"2022 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: Developed by the task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS). Endorsed by the International Society for Heart and Lung Transplantation (ISHLT) and the European Reference Network on rare respiratory diseases (ERN-LUNG)","volume":"43","author":"Humbert","year":"2022","journal-title":"Eur. Heart J."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1097\/MCP.0000000000000414","article-title":"Genetics of pulmonary hypertension in the clinic","volume":"23","author":"Girerd","year":"2017","journal-title":"Curr. Opin. Pulm. Med."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Casta\u00f1o, J.A.T., Hern\u00e1ndez-Gonzalez, I., Gallego, N., P\u00e9rez-Olivares, C., Ochoa Parra, N., Arias, P., Granda, E., Acebo, G.G., Lago-Docampo, M., and Palomino-Doza, J. (2020). Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension. Genes, 11.","DOI":"10.3390\/genes11101158"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1056\/NEJMoa2213558","article-title":"Phase 3 trial of sotatercept for treatment of pulmonary arterial hypertension","volume":"388","author":"Hoeper","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1038\/s41467-018-03672-4","article-title":"Identification of rare sequence variation underlying heritable pulmonary arterial hypertension","volume":"9","author":"Haimel","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_7","first-page":"100925","article-title":"Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension","volume":"25","author":"Welch","year":"2023","journal-title":"medRxiv"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/s13073-018-0566-x","article-title":"Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease","volume":"10","author":"Zhu","year":"2018","journal-title":"Genome Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"4129","DOI":"10.1242\/dev.091793","article-title":"Sox proteins: Regulators of cell fate specification and differentiation","volume":"140","author":"Kamachi","year":"2013","journal-title":"Development"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.stem.2012.12.007","article-title":"The sox family of transcription factors: Versatile regulators of stem and progenitor cell fate","volume":"12","author":"Sarkar","year":"2013","journal-title":"Cell Stem Cell"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1387\/ijdb.103158sp","article-title":"Sox17-dependent gene expression and early heart and gut development in Sox17-deficient mouse embryos","volume":"55","author":"Pfister","year":"2011","journal-title":"Int. J. Dev. Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.biocel.2009.08.017","article-title":"SoxF genes: Key players in the development of the cardio-vascular system","volume":"42","author":"Francois","year":"2010","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.ydbio.2013.11.018","article-title":"Sox17 is required for normal pulmonary vascular morphogenesis","volume":"387","author":"Lange","year":"2014","journal-title":"Dev. Biol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.bbrc.2007.06.093","article-title":"Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos","volume":"360","author":"Sakamoto","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1038\/ncb2724","article-title":"The expression of Sox17 identifies and regulates haemogenic endothelium","volume":"15","author":"Clarke","year":"2013","journal-title":"Nat. Cell Biol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1172\/JCI64547","article-title":"Sox17 promotes tumor angiogenesis and destabilizes tumor vessels in mice","volume":"123","author":"Yang","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2200656","DOI":"10.1183\/13993003.00656-2022","article-title":"An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants","volume":"60","author":"Montani","year":"2022","journal-title":"Eur. Respir. J."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"11953","DOI":"10.1038\/s41598-019-48321-y","article-title":"Sox17 expression in endocardium precursor cells regulates heart development in mice","volume":"9","author":"Saba","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.ijcard.2016.02.150","article-title":"BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease","volume":"211","author":"Liu","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1183\/09031936.04.00018604","article-title":"BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease","volume":"24","author":"Roberts","year":"2004","journal-title":"Eur. Respir. J."},{"key":"ref_22","first-page":"390","article-title":"International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001","volume":"31","author":"Petty","year":"2004","journal-title":"J. Rheumatol."},{"key":"ref_23","unstructured":"Weiss, J.E., Lee, T., Rabinovich, C.E., Wallace, C.A., Oliveira, S.K., Onel, K., Anton, J., and Kimura, Y. (2008). Arthritis and Rheumatism, Wiley-Liss Div John Wiley & Sons Inc."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/acr.21889","article-title":"Pulmonary hypertension and other potentially fatal pulmonary complications in systemic juvenile idiopathic arthritis","volume":"65","author":"Kimura","year":"2013","journal-title":"Arthritis Care Res."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1084\/jem.20050473","article-title":"Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade","volume":"201","author":"Pascual","year":"2005","journal-title":"J. Exp. Med."},{"key":"ref_26","unstructured":"Irigoyen, P.I., Olson, J., Hom, C., and Ilowite, N.T. (2004). Arthritis and Rheumatism, Wiley-Liss Div John Wiley & Sons Inc."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1378\/chest.11-0793","article-title":"Inflammation in pulmonary arterial hypertension","volume":"141","author":"Price","year":"2012","journal-title":"Chest"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1536\/ihj.20-711","article-title":"SOX17 loss-of-function mutation underlying familial pulmonary arterial hypertension","volume":"62","author":"Wang","year":"2021","journal-title":"Int. Heart J."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1161\/CIRCRESAHA.118.313374","article-title":"Smooth muscle contact drives endothelial regeneration by BMPR2-notch1\u2013mediated metabolic and epigenetic changes","volume":"124","author":"Miyagawa","year":"2019","journal-title":"Circ. Res."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/10\/1965\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:09:04Z","timestamp":1760130544000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/10\/1965"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,20]]},"references-count":29,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["genes14101965"],"URL":"https:\/\/doi.org\/10.3390\/genes14101965","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,20]]}}}