Evidence map›Paper›PMID 40796707›Full record

ArticleJournal of applied genetics2026

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

Katarzyna Niepokój, Agnieszka Magdalena Rygiel, Katarzyna Wertheim-Tysarowska, Justyna Sawicka, Barbara Dorożko, Alicja Grabarczyk, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Jakub Klapecki, Artur Barczyk and 11 more

Abstract read
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In one paragraph

Article in Journal of applied genetics, 2026. 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
–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

1 citing paper in PubMed.

  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

21 authors.

Katarzyna NiepokójDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. katarzyna.niepokoj@imid.med.pl.ORCID http://orcid.org/0000-0002-8205-375X
Agnieszka Magdalena RygielDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Katarzyna Wertheim-TysarowskaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Justyna SawickaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Barbara DorożkoDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Alicja GrabarczykDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jakub KlapeckiDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Artur BarczykDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Paweł WłasienkoDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Piotr JurczakCenter of Diagnosis, Treatment and Rehabilitation of Hearing, Voice and Speech Disorders, John Paul II Podkarpacie Voivodeship Hospital, Krosno, Poland.
Aneta LebiedzińskaDepartment of Oncology, Collegium Medicum, University of Warmia and Mazury, Olsztyn, Poland.
Robert ŚmigielDepartment of Family and Pediatric Nursing, Wroclaw Medical University, Wrocław, Poland.
Aleksandra JakubiakDepartment of Genetics, Wroclaw Medical University, Wrocław, Poland.
Jolanta WierzbaDepartment of Internal and Pediatric Nursing, Medical University of Gdansk, Gdańsk, Poland.
Ewa KaczorowskaGenetic and Prenatal Diagnosis Ambulatory Unit, Gdansk University Hospital, Gdańsk, Poland.
Aleksandra PietrzykDepartment of Clinical Genetics and Pathomorphology, University of Zielona Gora, Zielona Góra, Poland.
Grażyna Sorbaj-SucharskaGenetic Clinics, Prof. Stanisław Popowski Regional Specialized Children's Hospital, Olsztyn, Poland.
Janusz LimonGenetic and Prenatal Diagnosis Ambulatory Unit, Gdansk University Hospital, Gdańsk, Poland.
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Funding

Institute of Mother and Child Warsaw 510-18-07Instituto Nacional de Ciência e Tecnologia em Teranóstica e Nanobiotecnologia 2014/13/N/NZ5/03671
6 · The paper itself

Abstract

The etiology of hearing loss (HL) is heterogeneous. It is estimated that 50-60% of the cases have a genetic background, with the other part being environmental. Isolated HL is responsible for nearly two-thirds of congenital cases, and the remaining part accounts for syndromic forms (SHL). The study aim was to examine the molecular basis of HL in 48 Polish patients with isolated, non-DFNB1 hearing loss using the targeted next-generation sequencing technique (NGS). The molecular cause of the HL was defined in 39.6% (19/48) of patients. In thirteen genes, we identified causative variants, including six novel ones: p.Gly1326Val (STRC), p.Pro104ThrfsTer2 (MYO6), p.Tyr186Ter (GATA3), p.Ile1584SerfsTer12 (MYO15A), p.Pro559Leu, and p.Glu542del (CDH23). The pathogenic status of novel variants was assessed by using bioinformatic tools and the ACMG recommendations. The most frequent genetic variants were the STRC gene deletions and point variants in Usher syndrome genes. For 36.8% of patients, the molecular diagnosis suggested SHL (Deafness-Infertility Syndrome (DIS), Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR), Usher, Perrault and Waardenburg syndromes). The obtained results confirmed the heterogeneity of the molecular basis of HL in Polish patients and the usefulness of the NGS technique as a diagnostic tool.

Indexed as

Hearing LossHigh-Throughput Nucleotide SequencingAdolescentAdultChildChild, PreschoolFemaleHumansIntercellular Signaling Peptides and ProteinsMaleMutationPolandYoung AdultIntercellular Signaling Peptides and ProteinsSTRC protein, humanChange of clinical diagnosisNGSNon-syndromic hearing lossSyndromic hearing loss

Identifiers

PMID40796707
PMCPMC13534204

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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.