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Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature

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, particular...

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Autores principales: Gallego-Zazo, Natalia, Cruz-Utrilla, Alejandro, del Cerro, María Jesús, Ochoa Parra, Nuria, Blanco, Julián Nevado, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Tenorio-Castaño, Jair
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141352/
https://www.ncbi.nlm.nih.gov/pubmed/35627312
http://dx.doi.org/10.3390/genes13050927
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author Gallego-Zazo, Natalia
Cruz-Utrilla, Alejandro
del Cerro, María Jesús
Ochoa Parra, Nuria
Blanco, Julián Nevado
Arias, Pedro
Lapunzina, Pablo
Escribano-Subias, Pilar
Tenorio-Castaño, Jair
author_facet Gallego-Zazo, Natalia
Cruz-Utrilla, Alejandro
del Cerro, María Jesús
Ochoa Parra, Nuria
Blanco, Julián Nevado
Arias, Pedro
Lapunzina, Pablo
Escribano-Subias, Pilar
Tenorio-Castaño, Jair
author_sort Gallego-Zazo, Natalia
collection PubMed
description 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.
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spelling pubmed-91413522022-05-28 Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature Gallego-Zazo, Natalia Cruz-Utrilla, Alejandro del Cerro, María Jesús Ochoa Parra, Nuria Blanco, Julián Nevado Arias, Pedro Lapunzina, Pablo Escribano-Subias, Pilar Tenorio-Castaño, Jair Genes (Basel) Article 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. MDPI 2022-05-22 /pmc/articles/PMC9141352/ /pubmed/35627312 http://dx.doi.org/10.3390/genes13050927 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Gallego-Zazo, Natalia
Cruz-Utrilla, Alejandro
del Cerro, María Jesús
Ochoa Parra, Nuria
Blanco, Julián Nevado
Arias, Pedro
Lapunzina, Pablo
Escribano-Subias, Pilar
Tenorio-Castaño, Jair
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title_full Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title_fullStr Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title_full_unstemmed Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title_short Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
title_sort description of two new cases of aqp1 related pulmonary arterial hypertension and review of the literature
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141352/
https://www.ncbi.nlm.nih.gov/pubmed/35627312
http://dx.doi.org/10.3390/genes13050927
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