Evidence map›Paper›PMID 40428343›Full record

ReviewGenes2025

A Novel Frameshift Variant and a Partial

Maria Tzetis, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma, Roser Pons, Aspasia Michoula, Ioanna Grivea, Aspasia Tsezou

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

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Maria TzetisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Thivon & Levadias, 11527 Athens, Greece.ORCID 0000-0002-6810-2922
Anastasios MitrakosLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Thivon & Levadias, 11527 Athens, Greece.
Ioanna PapathanasiouLaboratory of Cytogenetics and Molecular Genetics, Faculty of Medicine, University of Thessaly, 3 Panepistimiou, Biopolis, 41500 Larissa, Greece.
Vasiliki KoutePediatric Neurology Outpatient Clinic, Department of Pediatrics, University Hospital of Larissa, 41500 Larissa, Greece.
Konstantina KosmaLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Thivon & Levadias, 11527 Athens, Greece.
Roser PonsFirst Department of Pediatrics, Medical School, "Aghia Sophia" Children's Hospital, National and Kapodistrian University of Athens, Thivon and Papadiamantopoulou, 11527 Athens, Greece.
Aspasia MichoulaDepartment of Pediatrics, Faculty of Medicine, University of Thessaly, Biopolis, 41500 Larissa, Greece.
Ioanna GriveaDepartment of Pediatrics, Faculty of Medicine, University of Thessaly, Biopolis, 41500 Larissa, Greece.
Aspasia TsezouMedical Genetics Laboratory, GeneTech Analytics Ltd., 41 Asklepiou, 41222 Larissa, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKleefstra syndrome 1(KLEFS1, OMIM#610253) is a rare neurodevelopmental disorder (NDD) instigated by heterozygous variants or microdeletions occurring in the 9q34.4 genomic region of the euchromatic histone methyltransferase-1 (

methodsExome sequencing (ES), chromosomal microarray analysis (CMA), as well as sanger sequencing, for confirmation of the de novo status of the frameshift variant, were used.

resultsHere we describe two more cases, both males with a similar age and carriers of novel variants; one with a frameshift variant involving exon 13: p.Val692Glyfs*64 and the other with the smallest so far described, 11 Kb (exons 19-25), 9q34.4 microdeletion: 9q34.3 (140703393-140714454). Both presented with an NDD disorder with one showing more severe ID with significant social disabilities, while the other with the microdeletion had mild ID and following a normal education curriculum. Neither of them were obese nor had any other significant organ system disorder.

conclusionsThe observed phenotypic variability due to genotypic differences in the two children contributes to the expanding spectrum of KLEFS1 disease phenotypes.

Indexed as

Craniofacial AbnormalitiesFrameshift MutationHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseIntellectual DisabilityChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 9HumansMalePhenotypeEHMT1 protein, humanHistone-Lysine N-Methyltransferasearray comparative genomic hybridization (aCGH)exome sequencing (ES)Kleefstra 1 syndrome (KLEFS1)microdeletion 9q34.4

Identifiers

PMID40428343
PMCPMC12110755

What Socratic holds

Textmetadata
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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.