Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

BMC Pulmonary Medicine
Guoliang WangYuxin Fan

Abstract

Pulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor beta (TGF-β) signaling pathways. Defects in the BMP9 gene have been documented in hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, which is occasionally associated with PAH. Selective enhancement of endothelial BMPR2 with BMP9 reverses pulmonary arterial hypertension. We report the case of a 5-year-old Hispanic boy who was diagnosed with severe PAH and right heart failure at 3 years of age. During his stay in the pediatric intensive care unit, treatment was initiated with inhaled nitric oxide and intravenous epoprostenol; he subsequently was transitioned to treprostinil, sildenafil, and prophylactic enoxaparin. Now, two years later, the child is asymptomatic on sildenafil, bosentan, subcutaneous treprostinil, and warfarin. Genetic screening revealed a novel homozygous nonsense mutation in the BMP9 gene (c.76C > T; p.Gln26Ter). The child had no telangiectasias or arteriovenous malformations; family history also was negative. Subsequent parental test...Continue Reading

References

Dec 21, 2013·Journal of the American College of Cardiology·Florent SoubrierMarc Humbert
Dec 21, 2013·Journal of the American College of Cardiology·Marius M HoeperDavid B Badesch
Jun 18, 2014·Molecular Genetics & Genomic Medicine·Ayako ChidaToshio Nakanishi

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Citations

Oct 23, 2016·The Journal of Pathology·Lijiang Ma, Wendy K Chung
Mar 14, 2018·American Journal of Respiratory and Critical Care Medicine·Evan L BrittainPaul B Yu
Sep 25, 2018·The Journal of Pathology·Maria Catalina Gomez-PuertoGonzalo Sanchez-Duffhues
Jan 15, 2019·Circulation Research·Ly TuChristophe Guignabert
Dec 24, 2018·The European Respiratory Journal·Mélanie EyriesFlorent Soubrier
Oct 13, 2018·American Journal of Respiratory and Critical Care Medicine·Ivana NikolicPaul B Yu
Mar 12, 2019·Current Opinion in Hematology·Akiko Hata, Giorgio Lagna
Jun 6, 2017·Current Opinion in Pulmonary Medicine·Alice HuertasChristophe Guignabert
Aug 17, 2016·Biochemical Society Transactions·Wei LiNicholas W Morrell
Oct 30, 2019·American Journal of Respiratory and Critical Care Medicine·Joshua HodgsonNicholas W Morrell
Apr 24, 2020·Journal of Applied Physiology·Christina A EichstaedtEkkehard Grünig
Jul 4, 2020·American Journal of Medical Genetics. Part a·Sietse M AukemaWilhelmina S Kerstjens-Frederikse
May 15, 2020·Science Translational Medicine·Lai-Ming YungPaul B Yu
Jan 26, 2020·The European Respiratory Journal·Mélanie EyriesFlorent Soubrier
Apr 28, 2017·Cellular and Molecular Life Sciences : CMLS·Mar OrriolsPeter Ten Dijke
Aug 29, 2018·International Journal of Molecular Sciences·Adam Andruska, Edda Spiekerkoetter
Oct 20, 2018·International Journal of Molecular Sciences·Veronique M M VorselaarsMarco C Post
Feb 23, 2020·Arteriosclerosis, Thrombosis, and Vascular Biology·Haijuan JiangYulong He
Apr 14, 2018·Nature Communications·Stefan GräfNicholas W Morrell
Jan 10, 2020·Pediatric Pulmonology·Carrie L WelchWendy K Chung
Aug 14, 2019·Nature Reviews. Cardiology·Laura SouthgateNicholas W Morrell
Oct 22, 2020·Genes·Carrie L Welch, Wendy K Chung
Nov 26, 2020·Genes·Meghan M CirulisGreg Elliott
Mar 19, 2021·The Application of Clinical Genetics·Emmanuel Eroume-A EgomRene Kamgang
Jun 30, 2021·Archives of Toxicology·Julia BuchmuellerStefanie Hessel-Pras
Jul 13, 2021·Tetrahedron Letters·Anna R Kaplan, William M Wuest
Jul 10, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Agnès Desroches-CastanSabine Bailly

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