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.authorKayıkçıoğlu, Meral
dc.contributor.authorNalbantgil, Sanem
dc.contributor.authorVuran, Özcan
dc.contributor.authorKemal, Hatice
dc.contributor.authorMoğulkoç, Nesrin
dc.contributor.authorOnay, Hüseyin
dc.date.accessioned2020-12-01T12:26:39Z
dc.date.available2020-12-01T12:26:39Z
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.identifier.endpage496en_US
dc.identifier.issn2149-2263
dc.identifier.issn2149-2271
dc.identifier.issue7en_US
dc.identifier.startpage491en_US
dc.identifier.urihttps://app.trdizin.gov.tr//makale/TWpVd056WXlNZz09
dc.identifier.urihttps://hdl.handle.net/11454/65654
dc.identifier.volume16en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofThe Anatolian Journal of Cardiologyen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectKalp ve Kalp Damar Sistemien_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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