A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
- Authors
- Ma, Youngeun; Jang, Mi-Ae; Yoo, Hye Soo; Ahn, So Yoon; Sung, Se In; Chang, Yun Sil; Ki, Chang-Seok; Park, Won Soon
- Issue Date
- May-2017
- Publisher
- 연세대학교의과대학
- Keywords
- Alveolar capillary dysplasia with misalignment of pulmonary veins; FOXF1; Korean; pathogenic; variant
- Citation
- Yonsei Medical Journal, v.58, no.3, pp 672 - 675
- Pages
- 4
- Journal Title
- Yonsei Medical Journal
- Volume
- 58
- Number
- 3
- Start Page
- 672
- End Page
- 675
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/7579
- DOI
- 10.3349/ymj.2017.58.3.672
- ISSN
- 0513-5796
1976-2437
- 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.
- Files in This Item
- There are no files associated with this item.
- Appears in
Collections - College of Medicine > Department of Clinical Pathology > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.