Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension

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dc.contributor.authorMutlu, Zeynep
dc.contributor.authorKayikcioglu, Meral
dc.contributor.authorNalbantgil, Sanem
dc.contributor.authorVuran, Ozcan
dc.contributor.authorKemal, Hatice
dc.contributor.authorMogulkoc, Nesrin
dc.contributor.authorErturk, Biray
dc.contributor.authorOnay, Huseyin
dc.contributor.authorEroglu, Zuhal
dc.contributor.authorKultursay, Hakan
dc.date.accessioned2019-10-27T23:09:12Z
dc.date.available2019-10-27T23:09:12Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: Germline mutations in the bone morphogenetic protein receptor type-2 (BMPR2) gene are considered to be a major risk factor for pulmonary arterial hypertension (PAH). BMPR2 mutations have been reported in 10%-20% of idiopathic PAH and in 80% of familial PAH cases. The aim of this study was to evaluate the frequency of mutations in the serine/threonine kinase domain of the BMPR2 gene in a group of patients from a single PAH referral center in Turkey. Methods: This cross-sectional study used a DNA-sequencing method to investigate BMPR2 mutations in the serine-threonine-kinase domain in 43 patients diagnosed with PAH [8 with idiopathic PAH and 35 with congenital heart disease (CHD)] from a single PAH referral center. Patients were included if they had a hemodynamically measured mean pulmonary arterial pressure of >25 mm Hg with a mean pulmonary capillary wedge pressure of <= 15 mm Hg. Patients with severe left heart disease and/or pulmonary disease that could cause pulmonary hypertension were excluded. Associations between categoric variables were determined using the chi-square test. Differences between idiopathic and CHD-associated PAH groups were compared with the unpaired Student's t-test for continuous variables. Results: We detected a missense mutation, [p.C347Y (c.1040G>A)], in one patient with idiopathic PAH in exon 8 of the BMPR2 gene. The mutation was detected in a 27-year-old female with a remarkable family history for PAH. She had a favorable response to endothelin receptor antagonists. No mutations were detected in the exons 5-11 of the BMPR2 gene in the PAH-CHD group. Conclusion: A missense mutation was detected in only one of the eight patients with idiopathic PAH. The BMPR2 missense mutation rate of 12.5% in this cohort of Turkish patients with idiopathic PAH was similar to that seen in European registries. The index patient was a young female with a family history remarkable for PAH; she had a good long-term response to PAH-specific treatment, probably due to the early initiation of the treatment. Genetic screening of families affected by PAH might have great value in identifying the disease at an early stage.en_US
dc.description.sponsorshipEge University, APAK [2.100.2012.0038]en_US
dc.description.sponsorshipThis study was supported by Ege University, APAK (Grant Number: 2.100.2012.0038).en_US
dc.identifier.doi10.5152/AnatolJCardiol.2015.6297
dc.identifier.endpage496en_US
dc.identifier.issn2149-2263
dc.identifier.issn2149-2271
dc.identifier.issue7en_US
dc.identifier.pmid26645265en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage491en_US
dc.identifier.urihttps://doi.org/10.5152/AnatolJCardiol.2015.6297
dc.identifier.urihttps://hdl.handle.net/11454/52560
dc.identifier.volume16en_US
dc.identifier.wosWOS:000384426300007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Soc Cardiologyen_US
dc.relation.ispartofAnatolian Journal of Cardiologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDNA sequencingen_US
dc.subjectBMPR2 mutationen_US
dc.subjectpulmonary arterial hypertensionen_US
dc.titleSequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertensionen_US
dc.typeArticleen_US

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