ArticleClinical genetics2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
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Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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21citing papers in PubMed, 2 pooled it
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Human genetics · 2022Pooled it
- Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- CASZ1 regulates the maturation of outer hair cells and is required for hearing in mice.iScience · 2026Article
- Diagnostic Yield in Childhood-Onset Hearing Loss: A Meta-Analysis and Systematic Review.Life (Basel, Switzerland) · 2026Review
- Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.American journal of human genetics · 2026Article
- A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF.Human genomics · 2025Article
- IsMedComm · 2025Article
- De Novo HeterozygousInternational journal of molecular sciences · 2025Article
- Structure-Function Diversity of Calcium-Binding Proteins (CaBPs): Key Roles in Cell Signalling and Disease.Cells · 2025Review
- Advanced Omics Techniques for Understanding Cochlear Genome, Epigenome, and Transcriptome in Health and Disease.Biomolecules · 2023Review
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Article
- [Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Shared and organ-specific gene-expression programs during the development of the cochlea and the superior olivary complex.RNA biology · 2023Article
- Molecular Features of SLC26A4 Common Variant p.L117F.Journal of clinical medicine · 2022Article
- The Genomics of Auditory Function and Disease.Annual review of genomics and human genetics · 2022Review
- BiallelicNeurology. Genetics · 2022Article
- Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.Human genetics · 2022Article
- The noncoding genome and hearing loss.Human genetics · 2022Review
- The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.Human genetics · 2022Review
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Authors and funding
50 authors at 15 institutions in 4 countries.
Zippora BrownsteinDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-7958-304X
Suleyman GulsunerDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-3897-1238
Tom WalshDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0002-8875-0310
Fábio T A MartinsDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-3489-4095
Shahar TaiberDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-0787-4216
Ofer IsakovDepartment of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0003-0955-0802
Ming K LeeDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.
Mor Bordeynik-CohenDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-9735-7596
Maria BirkanDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Weise ChangLaboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.
Silvia CasadeiDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0003-2619-5662
Nada Danial-FarranDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-8092-3144
Amal Abu-RayyanDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-8061-5173
Ryan CarlsonDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0001-8311-481X
Lara KamalDepartment of Biological Sciences, Bethlehem University, Bethlehem, Palestine.ORCID 0000-0001-5820-5234
Asgeir Ö ArnthórssonDepartment of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.ORCID 0000-0002-0087-2525
Meirav SokolovDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-7958-4816
Dror GilonyDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-7802-9589
Noga LipschitzDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-1252-8641
Moshe FrydmanDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0003-2631-756X
Bella DavidovRaphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel.ORCID 0000-0002-4084-078X
Michal MacarovDepartment of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Michal SagiDepartment of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Chana VinklerInstitute of Medical Genetics, Wolfson Medical Center, Holon, Israel.ORCID 0000-0001-5991-4534
Hana PoranInstitute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Reuven SharonyGenetics Institute, Meir Medical Center, Kfar Saba and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-6899-9223
Nadra SamraZiv Medical Center, Zefat, Israel.
Na'ama ZviDepartment of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Hagit Baris-FeldmanGenetics Institute, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Amihood SingerCommunity Genetics Department, Public Health Services, Ministry of Health, Ramat Gan, Israel.
Ophir HandzelDepartment of Otolaryngology Head and Neck Surgery and Maxillofacial Surgery, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-6905-3034
Ronna HertzanoDepartment of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0002-8093-6567
Doaa Ali-NaffaaDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Noa Ruhrman-ShaharRaphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel.
Ory MadgarDepartment of Otolaryngology-Head and Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel.ORCID 0000-0003-0491-9068
Efrat Sofrin-DruckerRaphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel.
Amir PelegHuman Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel.ORCID 0000-0002-9563-7914
Morad KhayatGenetics Institute, Ha'Emek Medical Center, Afula, Israel.ORCID 0000-0002-4817-7492
Mordechai ShohatDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
Lina Basel-SalmonDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-9076-8157
Elon PrasDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-8094-7429
Dorit LevDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-6869-6727
Michael WolfDepartment of Otolaryngology-Head and Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel.
Eirikur SteingrimssonDepartment of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.ORCID 0000-0001-5826-7486
Noam ShomronDepartment of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-9913-6124
Matthew W KelleyLaboratory of Cochlear Development, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-7367-8697
Moien N KanaanDepartment of Biological Sciences, Bethlehem University, Bethlehem, Palestine.ORCID 0000-0002-3227-4685
Stavit Allon-ShalevGenetics Institute, Ha'Emek Medical Center, Afula, Israel.ORCID 0000-0002-1084-3066
Mary-Claire KingDepartments of Genome Sciences and Medicine, University of Washington, Seattle, Washington, USA.ORCID 0000-0001-9426-1743
Karen B AvrahamDepartment of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-4913-251X
Tel Aviv University · ILUniversity of Washington · USRafael Advanced Defense Systems (Israel) · ILBethlehem University · PSHadassah Medical Center · ILSheba Medical Center · ILNational Institute on Deafness and Other Communication Disorders · USUniversity of Iceland · ISCarmel Medical Center · ILEmek Medical Center · ILIsrael Ministry of Health · ILRebecca Sieff Hospital · ILTechnion – Israel Institute of Technology · ILUniversity of Maryland, Baltimore · USWolfson Medical Center · IL
Funding
Genomic Approaches to Discovery and Characterization of Genes for Inherited Hearing LossR01DC011835 · NIDCD · TEL AVIV UNIVERSITY · PI AVRAHAM, KAREN B., KANAAN, MOIEN · 2011 to 2022
$3.5MHair Cell Development in the Mammalian CochleaZ01DC000059 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI KELLEY, MATTHEW W · 2000 to 2008
$1.9MPOSTDOCTORAL RESEARCH TRAINING IN OTOLARYNGOLOGYT32DC000059 · NIDCD · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ANDERSON, JOHN H · 1999 to 2003
$453kIntramural NIH HHS Z01 DC000059NIDCD NIH HHS R01 DC011835NIDCD NIH HHS T32 DC000059
Abstract
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of diverse geographic origins, revealing a wide range of deafness-associated variants and enabling clinical characterization of the associated phenotypes. Our goal was to identify the genetic causes of inherited hearing loss in this population, and to determine relationships among genotype, phenotype, and ethnicity. Genomic DNA samples from informative relatives of 88 multiplex families, all of self-identified Jewish ancestry, with either non-syndromic or syndromic hearing loss, were sequenced for known and candidate deafness genes using the HEar-Seq gene panel. The genetic causes of hearing loss were identified for 60% of the families. One gene was encountered for the first time in human hearing loss: ATOH1 (Atonal), a basic helix-loop-helix transcription factor responsible for autosomal dominant progressive hearing loss in a five-generation family. Our results show that genomic sequencing with a gene panel dedicated to hearing loss is effective for genetic diagnoses in a diverse population. Comprehensive sequencing enables well-informed genetic counseling and clinical management by medical geneticists, otolaryngologists, audiologists, and speech therapists and can be integrated into newborn screening for deafness.
Indexed as
Genetic Predisposition to DiseaseAdolescentAdultBasic Helix-Loop-Helix ProteinsChildChild, PreschoolDeafnessFemaleGenetic Association StudiesHearing LossHumansIsraelJewsMalePedigreeYoung AdultATOH1 protein, humanBasic Helix-Loop-Helix Proteinsdeafnessdiagnosticsgene panelgenomicshearingmassively parallel sequencingnext‐generation sequencing
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