Evidence map›Paper›PMID 40605398›Full record

ArticleClinical genetics2026

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.

Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli and 6 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. 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
–field-weighted citation impact
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.

  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

16 authors.

Valentina LodatoDepartment of Experimental Medicine, Division of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
Massimo GalliDepartment of Odontostomatological Science and Maxillo-Facial Surgery, Sapienza University of Rome, Rome, Italy.
Giacomo D'AngeliDepartment of Odontostomatological Science and Maxillo-Facial Surgery, Sapienza University of Rome, Rome, Italy.
Irene BottilloDepartment of Experimental Medicine, Division of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
Luca CelliDepartment of Experimental Medicine, Division of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
Rosaria TurchettaDepartment of Sense Organs, Sapienza University of Rome, Rome, Italy.
Andrea ColizzaDepartment of Sense Organs, Sapienza University of Rome, Rome, Italy.
Francesca GiannoDepartment of Radiology, Oncology and Anatomical Pathology, Sapienza University of Rome, Rome, Italy.
Biagio PalmisanoDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Francesca Romana Federici StanganelliDepartment of Odontostomatological Science and Maxillo-Facial Surgery, Sapienza University of Rome, Rome, Italy.
Maria Rita BiancoDepartment of Health Science, University of Catanzaro, Catanzaro, Italy.
Daniela MessineoDepartment of Radiology, Oncology and Anatomical Pathology, Sapienza University of Rome, Rome, Italy.
Eugenia AllegraDepartment of Health Science, University of Catanzaro, Catanzaro, Italy.
Paola GrammaticoDepartment of Experimental Medicine, Division of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
Mara RiminucciDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Alessandro CorsiDepartment of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

Funding

EU-NextGeneration
6 · The paper itself

Abstract

Jones syndrome (JS) is an ultra-rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old woman, and in her mother. Exome Sequencing identified in both, but not in clinically unaffected members of the family (i.e., a sister and the brother of the proband), the heterozygous pathogenic variant c.2645T>G (p.Leu882*) in exon-5 of the REST gene. This study confirms that exon-5 REST variants cause JS.

Indexed as

Fibromatosis, GingivalGenetic Predisposition to DiseaseHearing Loss, SensorineuralRepressor ProteinsAdultExome SequencingExonsFemaleHeterozygoteHumansMaleMutationPedigreePhenotypeRE1-Silencing Transcription FactorRE1-Silencing Transcription FactorRepressor Proteinsexome sequencinggingival fibromatosisJones syndromeRESTsensorineural hearing loss

Identifiers

PMID40605398
PMCPMC12674978

What Socratic holds

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LicenceCC BY
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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 Socratic graph.