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• W2113417965 abstract "Background: Mutations in bone morphogenetic protein receptor type II (BMPR2) and activin-like kinase 1 (ALK1), have been implicated in the pathogenesis of heritable or idiopathic pulmonary arterial hypertension (HPAH/IPAH). However, there was still a lack of information regarding the underlying genetic factors in Taiwanese PAH patients.Methods: A total of 6 patients diagnosed with IPAH were enrolled in this study. The entire protein-coding region and intron/exon boundaries of the BMPR2 and ALK1 genes were amplified by polymerase chain reaction and analyzed by direct sequencing.Results: We identified 3 patients with BMPR2 heterozygous exonic mutations. One was a missense mutation. R491W. The second was a 2-base pair (bp) TG deletion at position s 1446 and 1447 relative to the translation start site. The third was a 2-bp CA deletion replaced by a single nucleotide T insertion at positions 991 and 992. The latter two mutations arc novel and expected to result in frame shifts and premature termination. None of these 6 patients carried exonic mutation s in the ALK1 gene.Conclusion: A substantial portion of Taiwanese IPAH patients carry BMPR2mutations. Since mutations in BMPR 2 may be heritable and are associated with poor prognosis, genetic screening for BMPR 2 mutation s may be necessary for Taiwanese IPAH patients." @default.
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• W2113417965 date "2012-09-01" @default.
• W2113417965 modified "2023-10-17" @default.
• W2113417965 title "BMPR2 Mutations in Six Taiwanese Patients with Idiopathic Pulmonary Arterial Hypertension" @default.
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