A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Yonsei Medical Journal
; : 672-675, 2017.
Article
in En
| WPRIM
| ID: wpr-124972
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Parents
/
Persistent Fetal Circulation Syndrome
/
Autopsy
/
DNA
/
Extracorporeal Membrane Oxygenation
/
Mortality
/
Sequence Analysis
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Hypertension, Pulmonary
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Korea
/
Lung
Type of study:
Prognostic_studies
Limits:
Female
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Humans
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Male
/
Newborn
Country/Region as subject:
Asia
Language:
En
Journal:
Yonsei Medical Journal
Year:
2017
Type:
Article