Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Autor:	Edel GG; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., Hol JA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Slot E; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., von der Thüsen JH; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., van Bever Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Jonge RCJ; Pediatric Intensive Care Unit, Department of Pediatrics and Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands., van Tienhoven M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Rottier RJ; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address: r.rottier@erasmusmc.nl.
Jazyk:	angličtina
Zdroj:	Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2023 Nov; Vol. 103 (11), pp. 100233. Date of Electronic Publication: 2023 Aug 09.
DOI:	10.1016/j.labinv.2023.100233
Abstrakt:	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. (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu