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

doi:10.1177/2045894020933081

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

Pulm Circ. 2021 Jul 12;10(3):2045894020933081. doi: 10.1177/2045894020933081. eCollection 2020 Jul-Sep.

Affiliations

¹ Division of Pulmonary and Critical Care Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA.
² Biomarker Discovery Program, Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA.
³ Department of Laboratory Genetics and Genomics, Mayo Clinic College of Medicine, Rochester, MN, USA.
⁴ Department of Cardiovascular Disease, Mayo Clinic College of Medicine, Rochester, MN, USA.

Abstract

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.

Keywords: BMPR2; genetic test; mutation.

Publication types

Case Reports