Evidence map›Paper›PMID 40371891›Full record

ArticleClinical genetics2025

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.

Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O Dosunmu, Ehsan Ullah, Bin Guan, Robert B Hufnagel, Brian P Brooks, Delphine Blain, Sabine Fuhrmann and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2025. 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

12 authors.

Diana BrightmanDivision of Human Genetics, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, Ohio, USA.
Nawaal ShinwariDivision of Human Genetics, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, Ohio, USA.
Aleksey PorolloDivision of Human Genetics, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, Ohio, USA.
Eniolami O DosunmuDepartment of Pediatric Ophthalmology, CCHMC, Cincinnati, Ohio, USA.
Ehsan UllahOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Bin GuanOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Robert B HufnagelOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Brian P BrooksOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Delphine BlainOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Sabine FuhrmannDepartment of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Brittany SimpsonDivision of Human Genetics, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, Ohio, USA.
Anne M SlavotinekDivision of Human Genetics, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, Ohio, USA.

Funding

Regulation of Eye MorphogenesisR01EY024373 · NEI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI SABINE FUHRMANN · 2015 to 2026
$3.4M
Role of Wnt/Frizzled signaling during eye developmentR01EY014954 · NEI · UNIVERSITY OF UTAH · PI FUHRMANN, SABINE · 2003 to 2013
$3.4M
Genomic analysis of microphthalmia, anophthalmia and colobomaR01EY032976 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SLAVOTINEK, ANNE M. · 2021 to 2023
$1.3M
Microphthalmia, anophthalmia and coloboma (MAC) and retinoic acid pathway genesR01EY035500 · NEI · CINCINNATI CHILDRENS HOSP MED CTR · PI SLAVOTINEK, ANNE M, TIBREWAL, SHAILJA · 2023 to 2025
$1.1M
NEI NIH HHS 1R01 EY032976NEI NIH HHS 1R01 EY035500NEI NIH HHS R01 EY014954NEI NIH HHS R01 EY024373NEI NIH HHS R01 EY032976NEI NIH HHS R01 EY035500
6 · The paper itself

Abstract

We present a 2-year-old male with bilateral iris and chorioretinal colobomas, speech delays, and facial and digital anomalies. Trio exome sequencing demonstrated a de novo, novel heterozygous variant, c.379G>A p.Glu127Lys in CDC42, conferring a diagnosis of Takenouchi-Kosaki syndrome. The p.Glu127Lys variant was not located in the same region as previously designated mutation classes for CDC42, and the patient's missense substitution was predicted to disrupt CDC42 interactions with Collybistin II and IQGAP1. As conditional knock-out mouse models have demonstrated coloboma in association with loss of Cdc42 expression, we conclude that the colobomas can be attributed to the CDC42 variant and that similar ocular anomalies are likely to be described with other Rho GTPases in the future.

Indexed as

cdc42 GTP-Binding ProteinColobomaMutation, MissenseChild, PreschoolExome SequencingGenetic Association StudiesHumansMalePhenotypecdc42 GTP-Binding ProteinCDC42 protein, humanCdc42CDC42colobomaTakenouchi‐Kosaki syndrome

Identifiers

PMID40371891
PMCPMC12353887

What OpenQuestion holds

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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 OpenQuestion graph.