Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G Edel, Janna A Hol, Evelien Slot, Jan H von der Thüsen, Yolande van Bever, Rogier C J de Jonge, Marianne van Tienhoven, Hennie T Bruggenwirth, Annelies de Klein, Robbert J Rottier*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

Original languageEnglish
Article number100233
Pages (from-to)100233
Number of pages1
JournalLaboratory Investigation
Volume103
Issue number11
Early online date9 Aug 2023
DOIs
Publication statusPublished - 1 Nov 2023

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