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Brief Report

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease

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Department of Cardiology, Hospital Universitario Río Hortega, 47012 Valladolid, Spain
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Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046 Madrid, Spain
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CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro Street, 3, 28029 Madrid, Spain
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ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital Universitario La Paz, 28046 Madrid, Spain
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Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
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CINBIO, Universidade de Vigo, 36310 Vigo, Spain
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Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain
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Unidad de Miocardiopatías Familiares, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
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CIBERCV, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, ISCIII, 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
Academic Editor: Stephen Yarwood
Cells 2021, 10(6), 1488; https://doi.org/10.3390/cells10061488
Received: 6 May 2021 / Revised: 5 June 2021 / Accepted: 7 June 2021 / Published: 13 June 2021
(This article belongs to the Special Issue BMP Signaling and Beyond: Breaking the Cell Code of PAH)
Pulmonary Arterial Hypertension (PAH) is a severe complication of Connective Tissue Disease (CTD), with remarkable morbidity and mortality. However, the molecular and genetic basis of CTD-PAH remains incompletely understood. This study aimed to screen for genetic defects in a cohort of patients with CTD-PAH, using a PAH-specific panel of 35 genes. During recruitment, 79 patients were studied, including 59 Systemic Sclerosis patients (SSc) and 69 females. Disease-associated variants were observed in nine patients: 4 pathogenic/likely pathogenic variants in 4 different genes (TBX4, ABCC8, KCNA5 and GDF2/BMP9) and 5 Variants of Unknown Significance (VUS) in 4 genes (ABCC8, NOTCH3, TOPBP1 and CTCFL). One patient with mixed CTD had a frameshift pathogenic variant in TBX4. Two patients with SSc-PAH carried variants in ABCC8. A patient diagnosed with Systemic Lupus Erythematous (SLE) presented a pathogenic nonsense variant in GDF2/BMP9. Another patient with SSc-PAH presented a pathogenic variant in KCNA5. Four patients with SSc-PAH carried a VUS in NOTCH1, CTCFL, CTCFL and TOPBP1, respectively. These findings suggest that genetic factors may contribute to Pulmonary Vascular Disease (PVD) in CTD patients. View Full-Text
Keywords: PAH; BMP signalling; genetics; immunity PAH; BMP signalling; genetics; immunity
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MDPI and ACS Style

Hernandez-Gonzalez, I.; Tenorio-Castano, J.; Ochoa-Parra, N.; Gallego, N.; Pérez-Olivares, C.; Lago-Docampo, M.; Palomino Doza, J.; Valverde, D.; Lapunzina, P.; Escribano-Subias, P. Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease. Cells 2021, 10, 1488. https://doi.org/10.3390/cells10061488

AMA Style

Hernandez-Gonzalez I, Tenorio-Castano J, Ochoa-Parra N, Gallego N, Pérez-Olivares C, Lago-Docampo M, Palomino Doza J, Valverde D, Lapunzina P, Escribano-Subias P. Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease. Cells. 2021; 10(6):1488. https://doi.org/10.3390/cells10061488

Chicago/Turabian Style

Hernandez-Gonzalez, Ignacio, Jair Tenorio-Castano, Nuria Ochoa-Parra, Natalia Gallego, Carmen Pérez-Olivares, Mauro Lago-Docampo, Julian Palomino Doza, Diana Valverde, Pablo Lapunzina, and Pilar Escribano-Subias. 2021. "Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease" Cells 10, no. 6: 1488. https://doi.org/10.3390/cells10061488

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