Evidence map›Paper›PMID 32413891›Full record

ArticlePediatric research2021

Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing.

Evelien Slot, Jan H von der Thüsen, Arno van Heijst, Ronald van Marion, Frank Magielsen, Hendrikus J Dubbink, Martin Post, Anne Debeer, Dick Tibboel, Robbert J Rottier and 1 more

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In one paragraph

Article in Pediatric research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 43% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 3 countries.

Evelien SlotDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Jan H von der ThüsenDepartment of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Arno van HeijstDepartment of Neonatology, Radboud University Medical Center-Amalia Children's Hospital, Nijmegen, The Netherlands.
Ronald van MarionDepartment of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Frank MagielsenDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Hendrikus J DubbinkDepartment of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Martin PostDepartment of Translational Medicine, Hospital for Sick Children, Toronto, ON, Canada.
Anne DebeerDepartment of Neonatology, University Hospitals Leuven, Leuven, Belgium.
Dick TibboelDepartment of Pediatric Surgery, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.
Robbert J RottierDepartment of Pediatric Surgery, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.
Annelies de KleinDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. a.deklein@erasmusmc.nl.
Erasmus MC · NLHospital for Sick Children · CAKU Leuven · BERadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal congenital lung disorder associated with heterozygous variants in the FOXF1 gene or its regulatory region. Patients with ACD/MPV unnecessarily undergo invasive and expensive treatments while awaiting a diagnosis. The aim of this study was to reduce the time to diagnose ACD/MPV by developing a targeted next-generation sequencing (NGS) panel that detects FOXF1 variants.

methodsA FOXF1-targeted NGS panel was developed for detection of mutations and large genomic alterations and used for retrospective testing of ACD/MPV patients and controls. Results were confirmed with Sanger sequencing and SNP array analysis.

resultsEach amplicon of the FOXF1-targeted NGS panel was efficiently sequenced using DNA isolated from blood or cell lines of 15 ACD/MPV patients and 8 controls. Moreover, testing of ACD/MPV patients revealed six novel and six previously described pathogenic or likely pathogenic FOXF1 alterations.

conclusionWe successfully designed a fast and reliable targeted genetic test to detect variants in the FOXF1 gene and its regulatory region in one run. This relatively noninvasive test potentially prevents unnecessary suffering for patients and reduces the use of futile and expensive treatments like extra-corporeal membrane oxygenation. IMPACT: FOXF1-targeted NGS potentially prevents ACD/MPV patients from unnecessary suffering and expensive treatments. FOXF1-targeted NGS potentially reduces the number of misdiagnosis in ACD/MPV patients. Retrospective testing of ACD/MPV patients using FOXF1-targeted NGS revealed six novel pathogenic or likely pathogenic variants.

Indexed as

Mutation3' Untranslated Regions5' Untranslated RegionsAbnormalities, MultipleDNA Copy Number VariationsDNA Mutational AnalysisExonsFemaleFibroblastsForkhead Transcription FactorsGene DuplicationHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornLung3' Untranslated Regions5' Untranslated RegionsForkhead Transcription FactorsFOXF1 protein, humanProtein Isoforms

Identifiers

PMID32413891
OpenAlexW3024964726

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.