Evidence map›Paper›PMID 37733178›Full record

ArticleNeuromolecular medicine2023

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder.

Antonio Gennaro Nicotera, Greta Amore, Maria Concetta Saia, Mirella Vinci, Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Giulia Spoto, Salvatore Saccone, Gabriella Di Rosa and 1 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Neuromolecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
  7. The Ambiguous Role of Growth Factors in Autism: What Do We Really Know?International journal of molecular sciences · 2025
    Review
  8. 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 1 country.

Antonio Gennaro Nicotera *Department of Human Pathology of the Adult and Developmental Age, "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Greta Amore *Department of Human Pathology of the Adult and Developmental Age, "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Maria Concetta SaiaDepartment of Human Pathology of the Adult and Developmental Age, "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Mirella VinciOasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.
Antonino MusumeciOasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.
Valeria ChiavettaOasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.
Concetta FedericoDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy.
Giulia SpotoDepartment of Biomedical Sciences, Dental Sciences and Morpho-Functional Imaging, University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Salvatore SacconeDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124, Catania, Italy. salvatore.saccone@unict.it.
Gabriella Di Rosa *Department of Biomedical Sciences, Dental Sciences and Morpho-Functional Imaging, University of Messina, Via Consolare Valeria 1, 98125, Messina, Italy.
Francesco Calì *Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018, Troina, Italy.
University of Messina · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITOasi Maria SS · ITUniversity of Catania · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGFR2 gene, determining a missense mutation. FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of FGFR2 on neurodevelopment. Our findings provide new insights into the potential causative role of FGFR2 gene in complex neurodevelopmental disorders.

Indexed as

Autism Spectrum DisorderReceptor, Fibroblast Growth Factor, Type 2HumansMutationMutation, MissenseSyndromeFGFR2 protein, humanReceptor, Fibroblast Growth Factor, Type 2AutismFGFR2 geneHuman chromosome 10Intellectual disabilityMissense mutationSanger sequencing

Identifiers

PMID37733178
PMCPMC10721674
OpenAlexW4386909964

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.