First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease-Reference-Cited by-同舟云学术

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Published:2022-12-15 Issue:12 Volume:206 Page:1522-1533
ISSN:1073-449X
Container-title:American Journal of Respiratory and Critical Care Medicine
language:en
Short-container-title:Am J Respir Crit Care Med

Author:

Prapa Matina¹²^ORCID,Lago-Docampo Mauro³⁴^ORCID,Swietlik Emilia M.¹⁵⁶,Montani David⁷^ORCID,Eyries Mélanie⁸,Humbert Marc⁷^ORCID,Welch Carrie L.⁹^ORCID,Chung Wendy K.⁹¹⁰^ORCID,Berger Rolf M. F.¹¹^ORCID,Bogaard Harm Jan¹²^ORCID,Danhaive Olivier¹³¹⁴^ORCID,Escribano-Subías Pilar¹⁵¹⁶^ORCID,Gall Henning¹¹^ORCID,Girerd Barbara⁷,Hernandez-Gonzalez Ignacio¹⁷,Holden Simon¹⁸,Hunt David¹⁹,Jansen Samara M. A.¹²^ORCID,Kerstjens-Frederikse Wilhelmina²⁰^ORCID,Kiely David G.²¹²²,Lapunzina Pablo²³²⁴²⁵^ORCID,McDermott John²⁶²⁷^ORCID,Moledina Shahin²⁸^ORCID,Pepke-Zaba Joanna⁶^ORCID,Polwarth Gary J.⁶^ORCID,Schotte Gwen¹²,Tenorio-Castaño Jair²³²⁴²⁵^ORCID,Thompson A. A. Roger²¹²²^ORCID,Wharton John²⁹^ORCID,Wort Stephen J.²⁹,Megy Karyn¹⁵^ORCID,Mapeta Rutendo¹⁵,Treacy Carmen M.¹,Martin Jennifer M.¹,Li Wei¹^ORCID,Swift Andrew J.²¹,Upton Paul D.¹,Morrell Nicholas W.¹⁵⁶³⁰^ORCID,Gräf Stefan¹³¹³⁰^ORCID,Valverde Diana³⁴^ORCID, , ,

Affiliation:

1. Department of Medicine and

2. St. George’s University Hospitals National Health Service (NHS) Foundation Trust, London, United Kingdom;

3. CINBIO, Universidade de Vigo, Vigo, Spain;

4. Rare Diseases and Pediatric Medicine, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain;

5. Addenbrooke’s Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;

6. Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;

7. Université Paris-Saclay, AP-HP, Service de Pneumologie, Centre de référence de l’hypertension pulmonaire, INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, France;

8. Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités, Paris, France;

9. Department of Pediatrics and

10. Department of Medicine, Columbia University Irving Medical Center, New York, New York;

11. Centre for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children’s Hospital, and

12. Department of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands;

13. Division of Neonatology, St.-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium;

14. Department of Pediatrics, University of California San Francisco, San Francisco, California;

15. Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain;

16. CIBERCV, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, ISCIII, Madrid, Spain;

17. Departamento de Cardiología, Hospital Universitario Río Hortega, Valladolid, Spain;

18. Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom;

19. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom;

20. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands;

21. Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom;

22. Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, United Kingdom;

23. Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain;

24. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain;

25. ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Brussels, Belgium;

26. Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom;

27. Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom;

28. Great Ormond Street Hospital, London, United Kingdom;

29. National Heart and Lung Institute, Imperial College London, London, United Kingdom;

30. National Institute of Health Research (NIHR) BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, United Kingdom;

31. Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom;

Funder

NIHR

Great Ormond Street Hospital Biomedical Research Centre

Great Ormond Street Hospital Charity

Medical Research Council

Dinosaur Trust

Fundación Contra la Hipertensión Pulmonar

NIHR Cambridge Biomedical Research Centre

Dutch Heart Foundation

British Heart Foundation

Instituto de Salud Carlos III

Consellería de Cultura, Educación e Ordenación Universitaria, Xunta de Galicia

Publisher

American Thoracic Society

Subject

Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine

Link

https://www.atsjournals.org/doi/pdf/10.1164/rccm.202203-0485OC

Reference40 articles.

1. Haemodynamic definitions and updated clinical classification of pulmonary hypertension

2. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family

3. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

4. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

5. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

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