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

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.

SUBMITTER: Chalmers SJ

PROVIDER: S-EPMC8278463 | biostudies-literature | 2020 Jul-Sep

REPOSITORIES: biostudies-literature

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

Chalmers Sarah J SJ Murphy Stephen J SJ Thompson Laura L LL Hoppman Nicole L NL Smadbeck James B JB Balcom Jessica R JR Harris Faye R FR Frantz Robert P RP Vasmatzis George G E Wylam Mark M

Pulmonary circulation 20200701 3

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 c ...[more]

PMID: 34290857

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Project description:The goal of this study is to compare transcriptome profiling (RNA-seq) in controls, unaffected BMPR2 mutation carriers and affected familial pulmonary arterial hypertension patients, to elucidate a protective feature in iPS derived endothelial cells from the mutation carriers.

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