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

Sarah J. Chalmers, Stephen J. Murphy, Laura L. Thompson, Nicole L. Hoppman, James B. Smadbeck, Jessica R. Balcom, Faye R. Harris, Robert P. Frantz, George Vasmatzis, Mark E. Wylam

Research output: Contribution to journalArticlepeer-review

Abstract

Co-first authors; these authors contributed equally to this manuscript. 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.

Original languageEnglish (US)
JournalPulmonary Circulation
Volume10
Issue number2
DOIs
StatePublished - 2020

Keywords

  • BMPR2
  • genetic test
  • mutation

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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