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

Autor: Chalmers SJ; Division of Pulmonary and Critical Care Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA., Murphy SJ; Biomarker Discovery Program, Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA., Thompson LL; Department of Laboratory Genetics and Genomics, Mayo Clinic College of Medicine, Rochester, MN, USA., Hoppman NL; Department of Laboratory Genetics and Genomics, Mayo Clinic College of Medicine, Rochester, MN, USA., Smadbeck JB; Biomarker Discovery Program, Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA., Balcom JR; Department of Laboratory Genetics and Genomics, Mayo Clinic College of Medicine, Rochester, MN, USA., Harris FR; Biomarker Discovery Program, Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA., Frantz RP; Department of Cardiovascular Disease, Mayo Clinic College of Medicine, Rochester, MN, USA., Vasmatzis G; Biomarker Discovery Program, Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA., E Wylam M; Division of Pulmonary and Critical Care Medicine, Mayo Clinic College of Medicine, Rochester, MN, USA.
Jazyk: angličtina
Zdroj: Pulmonary circulation [Pulm Circ] 2021 Jul 12; Vol. 10 (3), pp. 2045894020933081. Date of Electronic Publication: 2021 Jul 12 (Print Publication: 2020).
DOI: 10.1177/2045894020933081
Abstrakt: 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.
(© The Author(s) 2020.)
Databáze: MEDLINE
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