Evidence map›Paper›PMID 40744518›Full record

ArticleJournal of medical genetics2025

Biallelic loss-of-function variants in

Hafiz Muhammad Jafar Hussain, Wang Meng, Yumei Li, Sabika Firasat, Mark E Pennesi, Michael B Gorin, Bin Guan, Rebecca Lynn Clark, Emma Fale-Olsen, Ranya Al Rawi and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical 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

15 authors.

Hafiz Muhammad Jafar HussainDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID http://orcid.org/0000-0001-5269-8971
Wang MengDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA.
Yumei LiDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA.
Sabika FirasatDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID http://orcid.org/0000-0003-4959-7832
Mark E PennesiRetina Foundation of the Southwest, Southwest, Dallas, Texas, USA.
Michael B GorinJules Stein Eye Institute, University of California Los Angeles, Los Angeles, California, USA.
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
Rebecca Lynn ClarkDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Emma Fale-OlsenDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Ranya Al RawiOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
Aime AgatherOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, USA.
Paul YangDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Anna MatyniaCollege of Optometry, University of Houston, Houston, Texas, USA.
Rui ChenDepartment of Ophthalmology, Center for Translational Vision Research, Irvine School of Medicine, University of California, Irvine, California, USA ruic20@hs.uci.edu.ORCID http://orcid.org/0000-0002-4387-9735

Funding

Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI John Peter Campbell · 1995 to 2026
$19.4M
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI UCI Center Core Grant for Vision ResearchP30EY034070 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Vladimir Jivkov Kefalov · 2022 to 2026
$3.7M
Antisense therapy for the treatment of visual loss in Usher syndromeR01EY030499 · NEI · LSU HEALTH SCIENCES CENTER · PI KOENEKOOP, ROBERT, LENTZ, JENNIFER JEAN · 2019 to 2023
$1.7M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600k
NEI NIH HHS P30 EY002520NEI NIH HHS P30 EY010572NEI NIH HHS P30 EY034070NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NEI NIH HHS R01 EY030499NIH HHS S10 OD023469
6 · The paper itself

Abstract

backgroundInherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs.

methodsAll patients underwent comprehensive ophthalmological evaluation, including retinal imaging (fundus autofluorescence and macular optical coherence tomography) and electroretinogram testing. Whole exome sequencing and whole genome sequencing were performed on patients with clinically unsolved IRD, and data were analysed using an in-house pipeline to identify causal variants. Subsequently, Sanger sequencing was performed to confirm identified variants.

resultsThree unrelated patients from Europe, Middle East and East Asia were identified with unique late-onset retinal degeneration (Stargardt-like phenotype) associated with biallelic loss-of-function (LoF) variants in

conclusionsOur findings establish

Indexed as

Genetic Predisposition to DiseaseLoss of Function MutationRetinal DegenerationAdultAllelesElectroretinographyExome SequencingFemaleHumansMaleMiddle AgedPedigreePhenotypeTomography, Optical CoherenceWhole Genome SequencingGeneticsGenetics, MedicalGenotypeOphthalmology

Identifiers

PMID40744518
PMCPMC12358183

What OpenQuestion holds

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Registered trials

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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.