Evidence map›Paper›PMID 38425142›Full record

ArticleAmerican journal of medical genetics. Part A2024

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack, Clara Hildebrant, Núria Martínez-Gil, Jennifer Mathews, Amelie Johanna Müller, Irene Valenzuela Palafoll and 2 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2024. 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
1.1field-weighted citation impact, top 22% 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, 2 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

12 authors at 6 institutions in 3 countries.

Alison GarberDepartment of Pediatrics, Columbia University, New York, New York, USA.ORCID 0000-0002-5000-5825
Lisa S WeingartenDepartment of Pediatrics, Columbia University, New York, New York, USA.ORCID 0009-0003-2890-0983
Nicolas J AbreuDepartment of Neurology, NYU Grossman School of Medicine, New York, New York, USA.
Houda Zghal ElloumiGeneDx, Gaithersburg, Maryland, USA.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Clara HildebrantDepartment of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.
Núria Martínez-GilDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.
Jennifer MathewsDepartment of Pediatrics, University of North Carolina, Chapel Hill, North Carolina, USA.
Amelie Johanna MüllerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Irene Valenzuela PalafollDepartment of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.
Connolly SteigerwaldDepartment of Neurology, NYU Grossman School of Medicine, New York, New York, USA.
Wendy K ChungBoston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Columbia University · USNew York University · USUniversity of North Carolina at Chapel Hill · USUniversity of Tübingen · DEVall d'Hebron Institut de Recerca · ESBoston Children's Hospital · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Institutional Career DevelopmentKL2TR001446 · NCATS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI PILLINGER, MICHAEL · 2015 to 2025
$6.7M
The Brief Research in Aging and Interdisciplinary NeurosciencesT35AG044303 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Sachin Agarwal, Jennifer Jaie Manly · 2013 to 2026
$1.9M
Ministerio de Ciencia e InnovaciónNCATS NIH HHS KL2 TR001446NIA NIH HHS T35 AG044303NIA NIH HHS T35AG044303NICHD NIH HHS P50 HD105351NIH HHS KL2TR001446Wellcome TrustWellcome Trust WT223718/Z/21/Z
6 · The paper itself

Abstract

FEZF2 encodes a transcription factor critical to neurodevelopment that regulates other neurodevelopment genes. Rare variants in FEZF2 have previously been suggested to play a role in autism, and cases of 3p14 microdeletions that include FEZF2 share a neurodevelopmental phenotype including mild dysmorphic features and intellectual disability. We identified seven heterozygous predicted deleterious variants in FEZF2 (three frameshifts, one recurrent missense in two independent cases, one nonsense, and one complete gene deletion) in unrelated individuals with neurodevelopmental disorders including developmental delay/intellectual disability, autism, and/or attention-deficit/hyperactivity. Variants were confirmed to be de novo in five of seven cases and paternally inherited from an affected father in one. Predicted deleterious variants in FEZF2 may affect the expression of genes that are involved in fate choice pathways in developing neurons, and thus contribute to the neurodevelopmental phenotype. Future studies are needed to clarify the mechanism by which FEZF2 leads to this neurodevelopmental disorder.

Indexed as

Intellectual DisabilityNeurodevelopmental DisordersPhenotypeAdolescentChildChild, PreschoolDevelopmental DisabilitiesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleNerve Tissue ProteinsTranscription FactorsFEZF2 protein, humanNerve Tissue ProteinsTranscription Factorsautismexome sequencingFEZF2neurodevelopmental disorder

Identifiers

PMID38425142
PMCPMC11161304
OpenAlexW4392354091

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.