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Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature
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 r...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606077/ https://www.ncbi.nlm.nih.gov/pubmed/37895315 http://dx.doi.org/10.3390/genes14101965 |
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author | Gallego-Zazo, Natalia Miranda-Alcaraz, Lucía Cruz-Utrilla, Alejandro del Cerro Marín, María Jesús Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, María Guillén Rodríguez, Inmaculada Becerra-Munoz, Victor Manuel Moya-Bonora, Amparo Ochoa Parra, Nuria Parra, Alejandro Pascual, Patricia Cazalla, Mario Silván, Cristina Arias, Pedro Valverde, Diana de Jesús-Pérez, Vinicio Lapunzina, Pablo Escribano-Subías, Pilar Tenorio-Castano, Jair |
author_facet | Gallego-Zazo, Natalia Miranda-Alcaraz, Lucía Cruz-Utrilla, Alejandro del Cerro Marín, María Jesús Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, María Guillén Rodríguez, Inmaculada Becerra-Munoz, Victor Manuel Moya-Bonora, Amparo Ochoa Parra, Nuria Parra, Alejandro Pascual, Patricia Cazalla, Mario Silván, Cristina Arias, Pedro Valverde, Diana de Jesús-Pérez, Vinicio Lapunzina, Pablo Escribano-Subías, Pilar Tenorio-Castano, Jair |
author_sort | Gallego-Zazo, Natalia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10606077 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-106060772023-10-28 Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature Gallego-Zazo, Natalia Miranda-Alcaraz, Lucía Cruz-Utrilla, Alejandro del Cerro Marín, María Jesús Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, María Guillén Rodríguez, Inmaculada Becerra-Munoz, Victor Manuel Moya-Bonora, Amparo Ochoa Parra, Nuria Parra, Alejandro Pascual, Patricia Cazalla, Mario Silván, Cristina Arias, Pedro Valverde, Diana de Jesús-Pérez, Vinicio Lapunzina, Pablo Escribano-Subías, Pilar Tenorio-Castano, Jair Genes (Basel) Article 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. MDPI 2023-10-20 /pmc/articles/PMC10606077/ /pubmed/37895315 http://dx.doi.org/10.3390/genes14101965 Text en © 2023 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 Miranda-Alcaraz, Lucía Cruz-Utrilla, Alejandro del Cerro Marín, María Jesús Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, María Guillén Rodríguez, Inmaculada Becerra-Munoz, Victor Manuel Moya-Bonora, Amparo Ochoa Parra, Nuria Parra, Alejandro Pascual, Patricia Cazalla, Mario Silván, Cristina Arias, Pedro Valverde, Diana de Jesús-Pérez, Vinicio Lapunzina, Pablo Escribano-Subías, Pilar Tenorio-Castano, Jair Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title | Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title_full | Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title_fullStr | Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title_full_unstemmed | Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title_short | Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature |
title_sort | seven additional patients with sox17 related pulmonary arterial hypertension and review of the literature |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606077/ https://www.ncbi.nlm.nih.gov/pubmed/37895315 http://dx.doi.org/10.3390/genes14101965 |
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