Evidence map›Paper›PMID 38095064›Full record

ArticleOphthalmic genetics2024

Case report: ocular manifestations of a gain-of-function mutation in

Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan Shinawi, Patricia Dickson, Ali Mian and 2 more

Registry-linked trialOpen access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 67% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Review
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 at 3 institutions in 1 country.

Lawrencia KimeraDepartment of Ophthalmology and Visual Sciences, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Sameera NadimpalliDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Sudhi KurupDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
F Sessions ColeDepartment of Pediatrics, Division of Neonatal Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Russell HuangDepartment of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Kathleen SiscoDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Hantamalala Ranay RanaivoDivision of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Marwan ShinawiDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0003-1329-4100
Patricia DicksonDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Ali MianDepartment of Radiology, Section of Neuroradiology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Margaret ReynoldsDepartment of Ophthalmology and Visual Sciences, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0002-2588-5517
Undiagnosed Diseases Network
Washington University in St. Louis · USLurie Children's Hospital · USNorthwestern University · US

Funding

WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JOSEPH D DOUGHERTY, Natasha Marrus · 2020 to 2026
$15.5M
WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITEU01HG010215 · NHGRI · WASHINGTON UNIVERSITY · PI DICKSON, PATRICIA I · 2018 to 2022
$3.4M
NHGRI NIH HHS U01 HG010215NICHD NIH HHS P50 HD103525
6 · The paper itself

Abstract

backgroundIn 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in

methodsHere, we report the ophthalmic findings of one of the first three patients with this disease (the proband) and review the findings in the other two patients in the literature.

resultsThe CLCN6 gene is part of the voltage-dependent chloride channel protein family. It functions as either a chloride channel aiding in cell-volume regulation and acidification of intracellular organelles or as an antiporter, which are membrane proteins involved in the transport of molecules across a phospholipid membrane. This particular gene is found in late endosomes. Ion transport across endosome membranes is essential for endosomal function. The proband carried a

conclusionWhile

Indexed as

Chloride ChannelsGain of Function MutationFemaleHumansMaleOptic NervePedigreeVisual AcuityChloride ChannelsCLCN6endosomeproband

Identifiers

PMID38095064
PMCPMC11176260
OpenAlexW4389738032

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Registered trials

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.