{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T14:26:58Z","timestamp":1780496818777,"version":"3.54.1"},"reference-count":28,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,22]],"date-time":"2022-05-22T00:00:00Z","timestamp":1653177600000},"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":["FISPI21\/01690"],"award-info":[{"award-number":["FISPI21\/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 a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which leads to a right ventricular hypertrophy and potentially heart failure and death. In the last several years, many genes have been associated with PAH, particularly in idiopathic and heritable forms but also in associated forms. Here we described the identification of two unrelated families in which the AQP1 variant was found from a cohort of 300 patients. The variants were identified by whole exome sequencing (WES). In the first family, the variant was detected in three affected members from a hereditary PAH, and in the second family the proband had PAH associated with scleroderma. In addition, we have reviewed all cases published in the literature thus far of patients with PAH and AQP1 variants. Functional studies have led to some contradictory conclusions, and the evidence of the relationship of AQP1 and PAH is still limited. However, we describe two further families with PAH and variants in AQP1, expanding both the number of cases and the clinically associated phenotype. We provide further evidence of the association of AQP1 and the development of hereditary and associated forms of PAH.<\/jats:p>","DOI":"10.3390\/genes13050927","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T02:57:02Z","timestamp":1653274622000},"page":"927","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7523-1474","authenticated-orcid":false,"given":"Natalia","family":"Gallego-Zazo","sequence":"first","affiliation":[{"name":"Institute of Medical and Molecular Genetics Molecular (INGEMM), Hospital Universitario La Paz Research Institute (IdiPaz), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, Center for Rare Disease Network Research, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 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":"Pulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Center for Networked Biomedical Research in Cardiovascular Diseases, Instituto de Salud Carlos III (CIBERCV), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jes\u00fas","family":"del Cerro","sequence":"additional","affiliation":[{"name":"Pulmonary Hypertension Unit, Hospital Universitario Ram\u00f3n y Cajal, 28034 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7018-9844","authenticated-orcid":false,"given":"Nuria","family":"Ochoa Parra","sequence":"additional","affiliation":[{"name":"Pulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Center for Networked Biomedical Research in Cardiovascular Diseases, Instituto de Salud Carlos III (CIBERCV), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n Nevado","family":"Blanco","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics Molecular (INGEMM), Hospital Universitario La Paz Research Institute (IdiPaz), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, Center for Rare Disease Network Research, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics Molecular (INGEMM), Hospital Universitario La Paz Research Institute (IdiPaz), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, Center for Rare Disease Network Research, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics Molecular (INGEMM), Hospital Universitario La Paz Research Institute (IdiPaz), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, Center for Rare Disease Network Research, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6640-4839","authenticated-orcid":false,"given":"Pilar","family":"Escribano-Subias","sequence":"additional","affiliation":[{"name":"Pulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Center for Networked Biomedical Research in Cardiovascular Diseases, Instituto de Salud Carlos III (CIBERCV), 28029 Madrid, Spain"},{"name":"ERN, European Reference Network Pulmonary Hypertension, 60590 Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio-Casta\u00f1o","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics Molecular (INGEMM), Hospital Universitario La Paz Research Institute (IdiPaz), Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"CIBERER, Center for Rare Disease Network Research, Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, 75019 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1801913","DOI":"10.1183\/13993003.01913-2018","article-title":"Haemodynamic definitions and updated clinical classification of pulmonary 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