Evidence map›Paper›PMID 31436901›Full record

ArticleAmerican journal of medical genetics. Part A2019

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Justyna A Karolak, Albino Bacolla, Qian Liu, Patrick E Lantz, John Petty, Pamela Trapane, Karin Panzer, Balagangadhar R Totapally, Zhiyv Niu, Rui Xiao and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

15 authors at 9 institutions in 2 countries.

Justyna A KarolakDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Albino BacollaDepartment of Cancer Biology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas.
Qian LiuDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Patrick E LantzDepartment of Pathology, Wake Forest School of Medicine, Baptist Medical Center, Winston-Salem, North Carolina.
John PettyDepartment of General Surgery, Wake Forest School of Medicine, Baptist Medical Center, Winston-Salem, North Carolina.
Pamela TrapaneDepartment of Pediatrics, Division of Pediatric Genetics, University of Florida College of Medicine-Jacksonville, Jacksonville, Florida.
Karin PanzerDepartment of Pediatrics, University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.
Balagangadhar R TotapallyDepartment of Pediatrics, Florida International University, Nicklaus Children's Hospital, Miami, Florida.
Zhiyv NiuDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
Rui XiaoBaylor Genetics, Houston, Texas.
Nina G XieDepartment of Bioengineering, Rice University, Houston, Texas.
Lucia R WuDepartment of Bioengineering, Rice University, Houston, Texas.
Przemyslaw SzafranskiDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.
David Y ZhangDepartment of Bioengineering, Rice University, Houston, Texas.
Paweł StankiewiczDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.ORCID 0000-0002-6456-7490
Baylor College of Medicine · USRice University · USAtrium Health Wake Forest Baptist · USBaylor Genetics · USFlorida International University · USPoznan University of Medical Sciences · PLThe University of Texas MD Anderson Cancer Center · USUniversity of Florida · USUniversity of Iowa Stead Family Children’s Hospital · US

Funding

Highly multiplexed and mutation-sensitive quantitative PCR for cancer diagnosticsR01CA203964 · NCI · RICE UNIVERSITY · PI ZHANG, DAVID YU · 2016 to 2020
$3.0M
Unrecognized scale and clinical relevance of somatic mosaicismR01HD087292 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI STANKIEWICZ, PAWEL · 2017 to 2021
$2.5M
Epigenomic dysfunction at 16q24.1 vascular defects and perinatal consequencesR01HL137203 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI STANKIEWICZ, PAWEL · 2017 to 2020
$2.0M
NCI NIH HHS R01 CA203964NHLBI NIH HHS R01 HL137203NICHD NIH HHS R01 HD087292
6 · The paper itself

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first month of life. Heterozygous point mutations or copy-number variant deletions involving FOXF1 and/or its upstream lung-specific enhancer on 16q24.1 have been identified in the vast majority of ACDMPV patients. We have previously described two unrelated families with a de novo pathogenic frameshift variant c.691_698del (p.Ala231Argfs*61) in the exon 1 of FOXF1. Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.

Indexed as

Comparative Genomic HybridizationCpG IslandsEnhancer Elements, GeneticFemaleForkhead Transcription FactorsFrameshift MutationHaploinsufficiencyHeterozygoteHumansINDEL MutationInfantInfant, NewbornMalePersistent Fetal Circulation SyndromePulmonary AlveoliPulmonary VeinsForkhead Transcription FactorsFOXF1 protein, humanCpG islandFOXF1 haploinsufficiencyrecurrent mutationtandem repeats

Identifiers

PMID31436901
PMCPMC6849398
OpenAlexW2969675779

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.