High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Abstract Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV‐causative CNV deletion inherited from a very‐low level somatic mosaic mother has been...

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Bibliographic Details
Main Authors: Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
genetics of lung development
germline mosaicism
parental mosaicism
somatic mosaicism
Online Access:https://doi.org/10.1002/mgg3.2062

Internet

https://doi.org/10.1002/mgg3.2062

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