A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
10.3349/ymj.2017.58.3.672
- Author:
Youngeun MA
1
;
Mi Ae JANG
;
Hye Soo YOO
;
So Yoon AHN
;
Se In SUNG
;
Yun Sil CHANG
;
Chang Seok KI
;
Won Soon PARK
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. wonspark@skku.edu
- Publication Type:Case Report
- Keywords:
Alveolar capillary dysplasia with misalignment of pulmonary veins;
FOXF1;
Korean;
pathogenic;
variant
- MeSH:
Autopsy;
DNA;
Extracorporeal Membrane Oxygenation;
Female;
Humans;
Hypertension, Pulmonary;
Infant, Newborn*;
Korea;
Lung;
Male;
Mortality;
Parents;
Persistent Fetal Circulation Syndrome*;
Sequence Analysis
- From:Yonsei Medical Journal
2017;58(3):672-675
- CountryRepublic of Korea
- Language:English
-
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.
