Evidence map›Paper›PMID 37975178›Full record

ArticleAmerican journal of medical genetics. Part A2024

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Tommi Salokivi, Riitta Parkkola, Yasmin Rajendran, Thashi Bharadwaj, Anushree Acharya, Suzanne M Leal, Irma Järvelä, Maria Arvio, Isabelle Schrauwen

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2024. 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
0.9field-weighted citation impact, top 19% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Expanding the Phenotype ofAnnals of the Child Neurology Society · 2025
    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

9 authors at 5 institutions in 3 countries.

Tommi SalokiviDepartment of Disability Services, The Wellbeing Services County of Southwest Finland, Paimio, Finland.ORCID 0000-0001-9514-9243
Riitta ParkkolaDepartment of Radiology, University of Turku and Turku University Hospital, Turku, Finland.
Yasmin RajendranCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Irma JärveläDepartment of Medical Genetics, University of Helsinki, Helsinki, Finland.
Maria ArvioDepartment of Neurology, Päijät-Häme Joint Municipal Authority, Lahti, Finland.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0001-7310-6082
Columbia University Irving Medical Center · USDepartment of Social Services · AUTurku University Hospital · FIUniversity of Helsinki · FIUniversity of Turku · FI

Funding

Elucidating the Genetic Etiology of Intellectual Disability in African, Asian, and European FamiliesR01HD109342 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL, Isabelle Veerle Suzanne Schrauwen · 2023 to 2026
$2.5M
Exploring the Genomic Dark Matter of Neurodevelopmental DisordersR21NS123325 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SCHRAUWEN, ISABELLE VEERLE SUZANNE · 2022 to 2023
$447k
NICHD NIH HHS R01 HD109342NINDS NIH HHS R21 NS123325
6 · The paper itself

Abstract

Bilateral perisylvian polymicrogyria (BPP) is a structural malformation of the cerebral cortex that can be caused by several genetic abnormalities. The most common clinical manifestations of BPP include intellectual disability and epilepsy. Cytoplasmic FMRP-interacting protein 2 (CYFIP2) is a protein that interacts with the fragile X mental retardation protein (FMRP). CYFIP2 variants can cause various brain structural abnormalities with the most common clinical manifestations of intellectual disability, epileptic encephalopathy and dysmorphic features. We present a girl with multiple disabilities and BPP caused by a heterozygous, novel, likely pathogenic variant (c.1651G>C: p.(Val551Leu) in the CYFIP2 gene. Our case report broadens the spectrum of genetic diversity associated with BPP by incorporating CYFIP2.

Indexed as

Abnormalities, MultipleBrain DiseasesIntellectual DisabilityMalformations of Cortical DevelopmentPolymicrogyriaAdaptor Proteins, Signal TransducingFemaleHumansAdaptor Proteins, Signal TransducingCYFIP2 protein, humanCYFIP2intellectual disabilitypolymicrogyria

Identifiers

PMID37975178
PMCPMC10939934
OpenAlexW4388774903

What OpenQuestion holds

Textmetadata
LicenceTDM
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.