Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension

Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II (BMPR2), the gene most commonly implicated in the pathogenesis of PAH. Herein, we present a novel technique u...

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Autores principales: Chalmers, Sarah J., Murphy, Stephen J., Thompson, Laura L., Hoppman, Nicole L., Smadbeck, James B., Balcom, Jessica R., Harris, Faye R., Frantz, Robert P., Vasmatzis, George, E. Wylam, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278463/
https://www.ncbi.nlm.nih.gov/pubmed/34290857
http://dx.doi.org/10.1177/2045894020933081
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author Chalmers, Sarah J.
Murphy, Stephen J.
Thompson, Laura L.
Hoppman, Nicole L.
Smadbeck, James B.
Balcom, Jessica R.
Harris, Faye R.
Frantz, Robert P.
Vasmatzis, George
E. Wylam, Mark
author_facet Chalmers, Sarah J.
Murphy, Stephen J.
Thompson, Laura L.
Hoppman, Nicole L.
Smadbeck, James B.
Balcom, Jessica R.
Harris, Faye R.
Frantz, Robert P.
Vasmatzis, George
E. Wylam, Mark
author_sort Chalmers, Sarah J.
collection PubMed
description Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II (BMPR2), the gene most commonly implicated in the pathogenesis of PAH. Herein, we present a novel technique used to identify a pathogenic germline BMPR2 alteration in a 36-year-old female and family members with hereditary pulmonary arterial hypertension who each screened negative by standard cytogenetics and molecular genetics testing.
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spelling pubmed-82784632021-07-20 Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension Chalmers, Sarah J. Murphy, Stephen J. Thompson, Laura L. Hoppman, Nicole L. Smadbeck, James B. Balcom, Jessica R. Harris, Faye R. Frantz, Robert P. Vasmatzis, George E. Wylam, Mark Pulm Circ Case Report Current guidelines suggest screening all patients with idiopathic pulmonary arterial hypertension for genetic aberrations, particularly mutations in Bone Morphogenic Protein Receptor Type II (BMPR2), the gene most commonly implicated in the pathogenesis of PAH. Herein, we present a novel technique used to identify a pathogenic germline BMPR2 alteration in a 36-year-old female and family members with hereditary pulmonary arterial hypertension who each screened negative by standard cytogenetics and molecular genetics testing. SAGE Publications 2021-07-12 /pmc/articles/PMC8278463/ /pubmed/34290857 http://dx.doi.org/10.1177/2045894020933081 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Chalmers, Sarah J.
Murphy, Stephen J.
Thompson, Laura L.
Hoppman, Nicole L.
Smadbeck, James B.
Balcom, Jessica R.
Harris, Faye R.
Frantz, Robert P.
Vasmatzis, George
E. Wylam, Mark
Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title_full Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title_fullStr Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title_full_unstemmed Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title_short Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
title_sort mate-pair sequencing identifies a cryptic bmpr2 mutation in hereditary pulmonary arterial hypertension
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278463/
https://www.ncbi.nlm.nih.gov/pubmed/34290857
http://dx.doi.org/10.1177/2045894020933081
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