Evidence map›Paper›PMID 41947040›Full record

ArticleMolecular medicine (Cambridge, Mass.)2026

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Asuman Koparir, Paulina Bahena Carbajal, Mina Zamini, Maryam Naghinejad, Paria Najarzadeh Torbati, Michaela A H Hofrichter, Stefanie Tovornik, Erkan Koparir, Neda Dragicevic Babic, Aboulfazl Rad and 32 more

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Article in Molecular medicine (Cambridge, Mass.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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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

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2 · The registry

The trial behind it

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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

42 authors.

Asuman KoparirInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Paulina Bahena CarbajalInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Mina ZaminiDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Maryam NaghinejadDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Paria Najarzadeh TorbatiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Michaela A H HofrichterInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Stefanie TovornikInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Erkan KoparirInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Neda Dragicevic BabicInstitute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.
Aboulfazl RadCellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
Daniel OwrangInstitute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.
Irem KalayDepartment of Medical Genetics, Umraniye Training and Research Hospital, University of Health Sciences Turkey, Istanbul, Turkey.
Niloofar ChamanrouDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Luis Nicolás Martínez VölterInstitute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.
Nele ChristophersenInstitute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.
Tayebeh BaranzehiDepartment of Plant Production and Genetic Engineering, Faculty of Agriculture, University of Saravan, Saravan, I. R. of Iran.
Mohsen RajatiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Stephen LoumDepartment of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, Tübingen, Germany.
Erdmute KunstmannInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Madiha ShadabDepartment of Zoology, Mirpur University of Science and Technology, Mirpur, Pakistan.
Ansar Ahmed AbbasiDepartment of Zoology, University of Azad Jammu and Kashmir Muzaffarabad, Muzaffarabad, 13100, Pakistan.
Mohammad DoostiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Neda AlidadianiAtrak Biotech, Research & Development Division, Bojnurd, Iran.
Shahrooz GhaderiInstitute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.
Tobias B HaackInstitute for Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Shahryar Alavi, Palindrome, Isfahan, Iran.
Julia DollInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Hannie KremerDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
Dor Mohammad Kordi-TamandaniDepartment of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Rahema MohammadCentre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Helge HebestreitCenter for Rare Diseases, University Hospital Würzburg, Würzburg, Germany.
Ehsan Ghayoor KarimianiDepartment of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Sophie FlandinDepartment of Otorhinolaryngology, Comprehensive Hearing Center, University Clinics, Würzburg, Germany.
Paola LinaresUniversidad Nacional Autónoma de México, Mexico City, Mexico.
Daniel VillalobosDepartment of Bioinformatics, University of Würzburg, Würzburg, Germany.
Henry HouldenCentre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Hamid GalehdariDepartment of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Wafaa Shehata-DielerDepartment of Otorhinolaryngology, Comprehensive Hearing Center, University Clinics, Würzburg, Germany.
Reza MaroofianCentre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Thomas HaafInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Barbara VonaInstitute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany. barbara.vona@med.uni-goettingen.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHearing loss (HL) is one of the most common congenital conditions and exhibits substantial clinical and genetic heterogeneity. More than 150 genes are associated with non-syndromic hearing loss (NSHL), while over 600 genes are linked to syndromic hearing loss (SHL). Importantly, the absence of additional clinical symptoms at the time of diagnosis does not necessarily exclude SHL. An increasing number of functionally disruptive variants in a growing number of genes have been shown to initially present as isolated HL, only later revealing syndromic features.

methodsWe analyzed clinical data from 111 patients across 102 unrelated families, selected from over 600 individuals negative for GJB2 and STRC variants. Molecular inversion probe panel, exome, or genome sequencing was performed, and patients were retrospectively divided into three subgroups following variant interpretation. Molecular docking was performed on select non-synonymous substitutions.

resultsSubgroup 1 included 30 patients with variants in neurodevelopmental disorder (NDD)-associated genes. HL was the first clinical manifestation in 80% of patients, with it being the sole first symptom in half. Subgroup 2 was comprised of 52 patients with variants in SHL-associated genes unrelated to NDD, while subgroup 3 included 29 patients with variants in genes associated with both NSHL and SHL, such as SLC26A4 and USH1C. In subgroups 2 and 3, HL was the sole initial symptom for nearly all patients (92% and 100%, respectively). Across the cohort, 99 variants in 44 genes were identified, including 36 novel variants.

conclusionThe frequent absence of syndromic features at presentation may lead to genetic testing or analysis restricted to NSHL-associated genes. Our findings highlight the critical role of comprehensive genomic testing in the diagnostic workup of HL, enabling earlier identification of syndromic forms and facilitating timely medical management, genetic counseling, and anticipatory care.

Indexed as

Genetic HeterogeneityHearing LossAdolescentChildChild, PreschoolConnexin 26FemaleGenetic Predisposition to DiseaseHumansInfantMaleMutationPhenotypeSyndromeConnexin 26GJB2 protein, humanComprehensive genomic testingNeurodevelopmental disordersNon-syndromic hearing lossNon-syndromic hearing loss mimicsSyndromic hearing loss

Identifiers

PMID41947040
PMCPMC13055003

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