A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
DC Field | Value | Language |
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dc.contributor.author | Ma, Youngeun | - |
dc.contributor.author | Jang, Mi-Ae | - |
dc.contributor.author | Yoo, Hye Soo | - |
dc.contributor.author | Ahn, So Yoon | - |
dc.contributor.author | Sung, Se In | - |
dc.contributor.author | Chang, Yun Sil | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Park, Won Soon | - |
dc.date.accessioned | 2021-08-11T14:44:31Z | - |
dc.date.available | 2021-08-11T14:44:31Z | - |
dc.date.issued | 2017-05 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.issn | 1976-2437 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/7579 | - |
dc.description.abstract | Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorporeal membrane oxygenation, his condition deteriorated rapidly, and he died within the first month of his life. Lung histology showed the characteristic features of ACD/MPV at autopsy. Sequence analysis of FOXF1 from genomic DNA obtained from autopsied lung tissue revealed that the patient was heterozygous for a novel missense variant (c.305T>C; p.Leu102Pro). Further analysis of both parents confirmed the de novo occurrence of the variant. To the best of our knowledge, this is the first report of genetically confirmed ACD/MPV in Korea. | - |
dc.format.extent | 4 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 연세대학교의과대학 | - |
dc.title | A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.3349/ymj.2017.58.3.672 | - |
dc.identifier.scopusid | 2-s2.0-85016224599 | - |
dc.identifier.wosid | 000404601400030 | - |
dc.identifier.bibliographicCitation | Yonsei Medical Journal, v.58, no.3, pp 672 - 675 | - |
dc.citation.title | Yonsei Medical Journal | - |
dc.citation.volume | 58 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 672 | - |
dc.citation.endPage | 675 | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002216188 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | sci | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | General & Internal Medicine | - |
dc.relation.journalWebOfScienceCategory | Medicine, General & Internal | - |
dc.subject.keywordPlus | TRANSCRIPTION FACTOR | - |
dc.subject.keywordPlus | VASCULATURE | - |
dc.subject.keywordPlus | LUNG | - |
dc.subject.keywordAuthor | Alveolar capillary dysplasia with misalignment of pulmonary veins | - |
dc.subject.keywordAuthor | FOXF1 | - |
dc.subject.keywordAuthor | Korean | - |
dc.subject.keywordAuthor | pathogenic | - |
dc.subject.keywordAuthor | variant | - |
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