Evidence map›Paper›PMID 40954079›Full record

ArticleClinical genetics2026

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication.

Omar Zgheib, Thomas Rio Frio, Jean-Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha-Vinh Leuchter and 3 more

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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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

13 authors.

Omar ZgheibDivision of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.ORCID 0000-0002-7520-4046
Thomas Rio FrioMolecular Diagnostics Laboratory, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Jean-Marie PellegrinelliDivision of Fetal Medicine, Department of Obstetrics, Gynecology and Pediatrics, Geneva University Hospitals, Geneva, Switzerland.
Stefania GimelliCytogenetics Laboratory, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Caterina MarconiCytogenetics Laboratory, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Delphine Le MercierDivision of Fetal Medicine, Department of Obstetrics, Gynecology and Pediatrics, Geneva University Hospitals, Geneva, Switzerland.
Monica Rebollo PoloDivision of Radiology, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Céline HabreDivision of Radiology, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Joël FlussDivision of Neuropediatrics, Department of Obstetrics, Gynecology and Pediatrics, Geneva University Hospitals, Geneva, Switzerland.
Russia Ha-Vinh LeuchterDivision of Child Development, Department of Obstetrics, Gynecology and Pediatrics, Geneva University Hospitals, Geneva, Switzerland.
Marc AbramowiczDivision of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Rosalinda GianniniDivision of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.
Siv FokstuenDivision of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Male-Specific Lethal 2 Homolog (MSL2) gene was recently reported to be responsible for a novel, rather severe neurodevelopmental syndrome including brain abnormalities. We report the first prenatal case of an MSL2-related pathology caused by a de novo MSL2 splice variant (c.142+1G>T). RNA study on amniotic fluid cells showed an intronic inclusion and frameshift, consistent with loss-of-function intolerance. The fetus, who presented with bilateral moderate ventriculomegaly, also carried a paternally inherited 15q13 microduplication. Brain MRI at 2 and 4 months of age showed stable, mildly enlarged lateral ventricles. Clinical evaluation at 11 months revealed only a mild developmental delay. This case illustrates the challenges in predicting the postnatal outcome of recently characterized syndromes with limited documented cases, especially in association with a second independent genetic anomaly. Follow-up will be crucial to better define the developmental impact of this first reported MSL2 splice mutation in combination with the 15q13 microduplication, and characterization of more patients with MSL2 mutations will contribute to expanding the phenotypic spectrum.

Indexed as

Chromosome DuplicationHydrocephalusIntellectual DisabilityPrenatal DiagnosisAdultChromosome AberrationsChromosomes, Human, Pair 15FemaleHumansInfantMagnetic Resonance ImagingMalePregnancy

Identifiers

PMID40954079
PMCPMC12881215

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