Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Rajiv D Machado; Carrie L Welch; Matthias Haimel; Marta Bleda; Elizabeth Colglazier; John D Coulson; Marusa Debeljak; Josef Ekstein; Jeffrey R Fineman; William Christopher Golden; Emily L Griffin; Charaka Hadinnapola; Michael A Harris; Yoel Hirsch; Julie Elizabeth Hoover-Fong; Lawrence Nogee; Lewis H Romer; Samo Vesel; NIHR Bioresource – Rare Diseases; Stefan Gräf; Nicholas W Morrell; Laura Southgate; Wendy K Chung

doi:10.1136/jmedgenet-2021-107831

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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

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Rajiv D Machado Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK PubMed articles Google scholar articles
Carrie L Welch Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA PubMed articles Google scholar articles
Matthias Haimel NIHR Bioresource – Rare Diseases, University of Cambridge, Cambridge, Cambridgeshire, UK Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK PubMed articles Google scholar articles
Marta Bleda Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK PubMed articles Google scholar articles
Elizabeth Colglazier Department of Nursing, University of California San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
John D Coulson Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Marusa Debeljak Clinical Institute of Special Laboratory Diagnostics, University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia Faculty of Medicine, Institute of Cell Biology, University of Ljubljana, Ljubljana, Slovenia PubMed articles Google scholar articles
Josef Ekstein Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA PubMed articles Google scholar articles
Jeffrey R Fineman Department of Pediatrics and Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
William Christopher Golden Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Emily L Griffin Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA PubMed articles Google scholar articles
Charaka Hadinnapola Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK PubMed articles Google scholar articles
Michael A Harris Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA PubMed articles Google scholar articles
Yoel Hirsch Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA PubMed articles Google scholar articles
Julie Elizabeth Hoover-Fong Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Lawrence Nogee Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Lewis H Romer Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Anesthesiology and Critical Care Medicine, Cell Biology, Biomedical Engineering, and the Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA PubMed articles Google scholar articles
Samo Vesel Department of Cardiology, University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia Department of Paediatrics, Teaching Hospital Celje, Celje, Slovenia PubMed articles Google scholar articles
NIHR Bioresource – Rare Diseases, University of Cambridge, Cambridge, Cambridgeshire, UK Google scholar articles
Stefan Gräf NIHR Bioresource – Rare Diseases, University of Cambridge, Cambridge, Cambridgeshire, UK Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK PubMed articles Google scholar articles
Nicholas W Morrell NIHR Bioresource – Rare Diseases, University of Cambridge, Cambridge, Cambridgeshire, UK Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK PubMed articles Google scholar articles
Laura Southgate Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK PubMed articles Google scholar articles
Wendy K Chung Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA PubMed articles Google scholar articles

Correspondence to Dr Wendy K Chung; wkc15{at}columbia.edu

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Citation

Machado RD, Welch CL, Haimel M, et al

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Journal of Medical Genetics 2022;59:906-911.

Publication history

Received March 21, 2021
Accepted August 12, 2021
First published September 7, 2021.

Online issue publication

November 15, 2022

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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