Evidence map›Paper›PMID 40317787›Full record

ArticlePrenatal diagnosis2025

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.

Kimia Ghannad-Zadeh, Patrick Shannon, Rebekah Jobling, Elka Miller, Karen Chong, Erin Mathews, David Chitayat, Shiri Shinar

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

Article in Prenatal diagnosis, 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

8 authors.

Kimia Ghannad-ZadehTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Patrick ShannonTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Rebekah JoblingTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Elka MillerTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Karen ChongTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Erin MathewsThe Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
David ChitayatTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.
Shiri ShinarTemerty Faculty of Medicine, University of Toronto, Toronto, Canada.ORCID 0000-0001-6352-4846

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KIDINS220 plays a key role in neuronal survival, differentiation, and synaptic function. Abnormalities in its expression have been linked postnatally to neurodevelopmental disorders and SINO syndrome though prenatal presentations are rarely described. We report a novel de novo heterozygous KIDINS220 variant identified prenatally associated with bilateral ventriculomegaly, abnormal anterior horns, aqueductal stenosis, and a hypoplastic corpus callosum. This is the first prenatal case of such findings in KIDINS220, emphasizing the value of trio WES/WGS for diagnosis and counseling.

Indexed as

Agenesis of Corpus CallosumCerebral AqueductHydrocephalusMembrane ProteinsNerve Tissue ProteinsFemaleHumansPregnancyUltrasonography, PrenatalMembrane ProteinsNerve Tissue Proteins

Identifiers

PMID40317787
PMCPMC12137044

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.