Evidence map›Paper›PMID 40610405›Full record

ArticleNature communications2025

Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Uma M Neelathi, Ehsan Ullah, Aman George, Mara I Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David McGaughey, Yuri V Sergeev, Ranya Ai Rawi and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Uma M Neelathi *Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-4870-4747
Ehsan Ullah *Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-0107-6608
Aman GeorgeOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-4315-7617
Mara I MafteiUCL Institute of Ophthalmology, University College London, London, UK.
Elangovan BoobalanOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0009-0000-2494-0927
Daniel Sanchez-MendozaOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Chloe AdamsOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0009-0007-0785-5641
David McGaugheyOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Yuri V SergeevOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-7204-6572
Ranya Ai RawiOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Amelia NaikOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-7764-3619
Chelsea BenderOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Irene H MaumeneeHarkness Eye Institute, Columbia University, New York, NY, USA.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, UK.
Tun Giap TanTorbay Hospital, Torbay and South Devon NHS Foundation Trust, Devon, UK.ORCID http://orcid.org/0000-0002-7033-9662
Siying LinUCL Institute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0003-1122-8396
Rafael VillasmilFlow Cytometry Core, National Eye Institute, Bethesda, MD, USA.
Delphine BlainOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-9275-5827
Robert B HufnagelOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Gavin ArnoUCL Institute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0002-6165-7888
Rodrigo M YoungUCL Institute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0001-5765-197X
Bin GuanOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-5986-5189
Brian P BrooksOphthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA. brooksb@mail.nih.gov.ORCID http://orcid.org/0000-0002-1916-7551

Funding

Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8M
NIGMS NIH HHS P20 GM139769
6 · The paper itself

Abstract

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe an autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. Genome sequencing identified six rare variants in the orphan nuclear receptor gene NR6A1 in these families. We performed in silico, cellular, and zebrafish experiments to demonstrate the NR6A1 variants were pathogenic or likely pathogenic for OVR syndrome. Knockdown of either or both zebrafish paralogs of NR6A1 results in abnormal eye, kidney, and somite development, which was rescued by wild-type but not variant NR6A1 mRNA. Illustrating the power of genomic ascertainment in medicine, our study establishes NR6A1 as a critical factor in eye, kidney, and vertebral development, and a pleiotropic gene responsible for OVR syndrome.

Indexed as

ColobomaMicrophthalmosSpineAdultAnimalsEyeFemaleHumansKidneyMalePedigreeZebrafishZebrafish ProteinsZebrafish Proteins

Identifiers

PMID40610405
PMCPMC12226721

What Socratic 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 Socratic graph.