Phenotype and outcome of PAH patients carrying a TBX4 mutation

P. Thoré (Le Kremlin-Bicêtre, France), B. Girerd (Le Kremlin-Bicêtre, France), X. Jaïs (Le Kremlin-Bicêtre, France), L. Savale (Le Kremlin-Bicêtre, France), M. Ghigna (Le Plessis Robinson, France), M. Eyries (Paris, France), M. Levy (Paris, France), C. Ovaert (Marseilles, France), A. Servettaz (Reims, France), A. Guillaumot (Nancy, France), C. Dauphin (Clermont, France), C. Chabanne (Rennes, France), E. Boiffard (La, France), V. Cottin (Lyon, France), F. Perros (Le Plessis Robinson, France), G. Simonneau (Le Kremlin-Bicêtre, France), S. Olivier (Le Kremlin-Bicêtre, France), F. Soubrier (Paris, France), D. Bonnet (Paris, France), M. Remy Jardin (Lille, France), A. Chaouat (Nancy, France), M. Humbert (Le Kremlin-Bicêtre, France), D. Montani (Le Kremlin-Bicêtre, France)

Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension
Session: Genetics and genomics of pulmonary arterial hypertension
Session type: Oral Presentation
Number: 4464
Disease area: Pulmonary vascular diseases

Congress or journal article abstractWebcastSlide presentationE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
P. Thoré (Le Kremlin-Bicêtre, France), B. Girerd (Le Kremlin-Bicêtre, France), X. Jaïs (Le Kremlin-Bicêtre, France), L. Savale (Le Kremlin-Bicêtre, France), M. Ghigna (Le Plessis Robinson, France), M. Eyries (Paris, France), M. Levy (Paris, France), C. Ovaert (Marseilles, France), A. Servettaz (Reims, France), A. Guillaumot (Nancy, France), C. Dauphin (Clermont, France), C. Chabanne (Rennes, France), E. Boiffard (La, France), V. Cottin (Lyon, France), F. Perros (Le Plessis Robinson, France), G. Simonneau (Le Kremlin-Bicêtre, France), S. Olivier (Le Kremlin-Bicêtre, France), F. Soubrier (Paris, France), D. Bonnet (Paris, France), M. Remy Jardin (Lille, France), A. Chaouat (Nancy, France), M. Humbert (Le Kremlin-Bicêtre, France), D. Montani (Le Kremlin-Bicêtre, France). Phenotype and outcome of PAH patients carrying a TBX4 mutation. 4464

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Source: Eur Respir J, 54 (2) 1801965; 10.1183/13993003.01965-2018
Year: 2019



Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation
Source: Eur Respir J, 55 (5) 1902340; 10.1183/13993003.02340-2019
Year: 2020



Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the ΔF508 mutation
Source: Annual Congress 2003 - Cystic fibrosis: new genes, new controversies
Year: 2003


Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation
Source: Eur Respir J 2004; 24: 1072-1073
Year: 2004


Homozygous mutations of ARFGAP1 gene in severe sarcoidosis
Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases
Year: 2020


Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 269-270
Year: 2014


Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 270-271
Year: 2014


Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.
Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis
Year: 2021



Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Source: Eur Respir J 2015; 46: 474-485
Year: 2015



Description of new CFTR gene’s mutations in patients of Russia
Source: Virtual Congress 2020 – Cystic fibrosis
Year: 2020


NKX2-1 impacts prognosis in early stage NSCLC not harboring TP53 mutations
Source: International Congress 2016 – Prognostic variables in lung cancer I
Year: 2016


Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood
Source: ERJ Open Res, 5 (3) 00066-2019; 10.1183/23120541.00066-2019
Year: 2019



Novel genetic variants in alpha-1 antitripsin deficiency cases carrying S alleles and discordant genotype and serum levels
Source: International Congress 2015 – Promising novel findings in translational pulmonary research
Year: 2015

High frequency of CFTR R75Q variant and mEPHX „slow" allele in COPD patients
Source: Eur Respir J 2005; 26: Suppl. 49, 343s
Year: 2005

Telomere-Related Gene mutations in a Greek cohort of suspected monogenic pulmonary fibrosis patients
Source: Virtual Congress 2020 – Idiopathic pulmonary fibrosis and interstitial lung disease: progression, genes and more
Year: 2020


Identification and characterisation of seven novel SERPINA1 null mutations
Source: International Congress 2014 – Genes and environment in asthma and COPD
Year: 2014



Sarcoidosis is associated with a truncating splice site mutation in the BTNL2 gene
Source: Eur Respir J 2005; 26: Suppl. 49, 468s
Year: 2005

Genetic polymorphism of FOXP3 gene in sarcoidosis patients
Source: Eur Respir J 2006; 28: Suppl. 50, 353s
Year: 2006

Target other gene point mutations: HER2 and rare EGFR mutations
Source: ERS Research Seminar
Year: 2015

Clinical outcomes after lung transplantation for fibrosis in telomerase related genes mutation carriers
Source: International Congress 2019 – Lung transplantation: from basic science to clinical outcomes
Year: 2019