Evidence map›Paper›PMID 40165225›Full record

ArticleBMC medical genomics2025

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing.

Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A H Hofrichter

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In one paragraph

Article in BMC medical genomics, 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. Review
  2. Whole exome sequencing: a new era in prenatal diagnostics.Journal of translational medicine · 2026
    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

10 authors.

Daniel Bengl *Institute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Asuman Koparir *Institute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany. asuman.koparir@uni-wuerzburg.de.
Wahyu Eka PrastyoInstitute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Christian RemmeleInstitute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Marcus DittrichInstitute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Sophie FlandinDepartment of Otorhinolaryngology, Comprehensive Hearing Center, Würzburg University Hospital, Josef-Schneider-Straße 11, Würzburg, 97080, Bavaria, Germany.
Waafa Shehata-DielerDepartment of Otorhinolaryngology, Comprehensive Hearing Center, Würzburg University Hospital, Josef-Schneider-Straße 11, Würzburg, 97080, Bavaria, Germany.
Clemens GrimmChair of Biochemistry, Theodor-Boveri-Institute at the Biocentre University of Würzburg, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Thomas HaafInstitute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.
Michaela A H HofrichterInstitute of Human Genetics, Julius Maximilians University, Am Hubland, Würzburg, 97074, Bavaria, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesHearing loss (HL) is one of the most common congenital disorders, affecting 1-2 in 1,000 newborns. Modern genetic diagnostics using large gene panels and/or whole exome analysis (WES) can identify disease-causing mutations in 25-50 % of patients, with higher solve rates in individuals with earlier onset.

resultsHere, we used whole-genome sequencing (WGS) to reanalyze 14 index patients/families who remained without genetic diagnosis by WES. We were able to identify the genetic cause of HL in 6 families (

conclusionIn our study, we present four novel variants in PTPRQ, three of which were detected only by WGS. To our knowledge, we report here the first pathogenic deep intronic PTPRQ variant causing HL. Our results suggest that the mutational spectrum of PTPRQ is not well covered by standard WES and that PTPRQ-associated hearing loss may be more frequent than previously thought. WGS provides an additional layer of information in the diagnostics of HL.

Indexed as

Exome SequencingHearing LossReceptor-Like Protein Tyrosine Phosphatases, Class 3Whole Genome SequencingChildFemaleHumansMaleMutationPedigreePTPRQ protein, humanReceptor-Like Protein Tyrosine Phosphatases, Class 3AlphafoldDeep intronic variantHearing lossPTPRQWGS

Identifiers

PMID40165225
PMCPMC11956499

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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.