Evidence map›Paper›PMID 38404254›Full record

ArticleMolecular genetics & genomic medicine2024

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.

Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A Lewis, Lisa Saba, Texome Project, Michael F Wangler, Sandesh Nagamani

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

Article in Molecular genetics & genomic medicine, 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
0.2field-weighted citation impact, top 47% 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, 1 citations in OpenAlex.

  1. 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 2 institutions in 1 country.

Ryan J GermanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID https://orcid.org/0000-0001-8193-7329
Blake VuocoloDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Liesbeth VossaertDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Nichole OwenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Richard A LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Lisa SabaDepartment of Pathology, Texas Children's Hospital, Houston, Texas, USA.
Texome Project
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Sandesh NagamaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Baylor College of Medicine · USTexas Children's Hospital · US

Funding

Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9M
Genomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8M
NHGRI NIH HHS R01 HG011795NHGRI NIH HHS R01HG011795NICHD NIH HHS P50 HD103555
6 · The paper itself

Abstract

backgroundThe RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been included in panel-based testing and thus genome-wide tests such as ES may be required for accurate diagnosis.

methodsThe Texome Project is studying the impact of ES in medically underserved patients who are in need of genomic testing to guide diagnosis and medical management. The hypothesis is that ES could uncover diagnoses not made by standard medical care.

resultsA 58-year-old male presented with retinitis pigmentosa, sensorineural hearing loss, and a family history of retinal diseases. A previous targeted gene panel for retinal disorders had not identified a molecular cause. ES through the Texome Project identified a novel, hemizygous variant in RPGR (NM_000328.3: c.1302dup, p.L435Sfs*18) that explained the ocular phenotype.

conclusionsContinued genetics evaluation can help to end diagnostic odysseys of patients. Careful consideration of genes represented when utilizing gene panels is crucial to ensure an accurate diagnosis. Medically underserved populations are less likely to receive comprehensive genetic testing in their diagnostic workup. Our report is an example of the medical impact of genomic medicine implementation.

Indexed as

Hearing Loss, SensorineuralRetinitis PigmentosaEye ProteinsGenes, X-LinkedGenetic TestingHumansMaleMiddle AgedEye ProteinsRPGR protein, humanexome sequencingretinal dystrophyretinitis pigmentosaRPGR

Identifiers

PMID38404254
PMCPMC10895382
OpenAlexW4392170810

What OpenQuestion holds

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LicenceCC BY-NC
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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.