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FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.

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Title: FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.
Authors: Liedtke D; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Rak K; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany., Schrode KM; Department of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Hehlert P; Department of Cellular Neurobiology, University of Göttingen, Göttingen, Germany., Chamanrou N; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Bengl D; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Katana R; Department of Cellular Neurobiology, University of Göttingen, Göttingen, Germany., Heydaran S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Doll J; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Han M; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Nanda I; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Senthilan PR; Neurobiology and Genetics, Theodor-Boveri-Institute, Biocenter, Julius-Maximilians-University of Würzburg, Am Hubland, Würzburg, Germany., Jürgens L; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany., Bieniussa L; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany., Voelker J; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany., Neuner C; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Hofrichter MA; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Schröder J; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Schellens RTW; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Zechner U; Institute of Human Genetics, University Medical Center, Johannes Gutenberg University, Mainz, Germany., Herms S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Institute of Medical Genetics and Pathology, University Hospital Basel, Switzerland.; Human Genomic Research Group, Department of Biomedicine, University of Basel, Switzerland., Hoffmann P; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Institute of Medical Genetics and Pathology, University Hospital Basel, Switzerland.; Human Genomic Research Group, Department of Biomedicine, University of Basel, Switzerland.; Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany., Müller T; Department of Bioinformatics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany., Dittrich M; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Department of Bioinformatics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany., Bartsch O; Human Genetics Unit, Medical Care Centre, Johannes Gutenberg University Mainz, Mainz, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Klopocki E; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Shehata-Dieler W; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK., Wang T; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Worley PF; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Göpfert MC; Department of Cellular Neurobiology, University of Göttingen, Göttingen, Germany., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Lauer AM; Department of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Haaf T; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany., Vona B; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.; Auditory Neuroscience and Optogenetics Laboratory, German Primate Center, Göttingen, Germany.; Collaborative Research Center 1690 (CRC1690), University of Göttingen, Göttingen, Germany.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 30. Date of Electronic Publication: 2026 Mar 30.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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  Data: FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.
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  Data: <searchLink fieldCode="AU" term="%22Liedtke+D%22">Liedtke D</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Rak+K%22">Rak K</searchLink>; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schrode+KM%22">Schrode KM</searchLink>; Department of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Hehlert+P%22">Hehlert P</searchLink>; Department of Cellular Neurobiology, University of Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Chamanrou+N%22">Chamanrou N</searchLink>; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.<br /><searchLink fieldCode="AU" term="%22Bengl+D%22">Bengl D</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Katana+R%22">Katana R</searchLink>; Department of Cellular Neurobiology, University of Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Heydaran+S%22">Heydaran S</searchLink>; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.<br /><searchLink fieldCode="AU" term="%22Doll+J%22">Doll J</searchLink>; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Han+M%22">Han M</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Nanda+I%22">Nanda I</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Senthilan+PR%22">Senthilan PR</searchLink>; Neurobiology and Genetics, Theodor-Boveri-Institute, Biocenter, Julius-Maximilians-University of Würzburg, Am Hubland, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Jürgens+L%22">Jürgens L</searchLink>; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bieniussa+L%22">Bieniussa L</searchLink>; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Voelker+J%22">Voelker J</searchLink>; Department of Oto-Rhino-Laryngology, Head and Neck Surgery and the Comprehensive Hearing Center, University Hospital Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Neuner+C%22">Neuner C</searchLink>; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hofrichter+MA%22">Hofrichter MA</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schröder+J%22">Schröder J</searchLink>; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schellens+RTW%22">Schellens RTW</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vrieze+E%22">de Vrieze E</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Wijk+E%22">van Wijk E</searchLink>; Department of Otorhinolaryngology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zechner+U%22">Zechner U</searchLink>; Institute of Human Genetics, University Medical Center, Johannes Gutenberg University, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Herms+S%22">Herms S</searchLink>; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Institute of Medical Genetics and Pathology, University Hospital Basel, Switzerland.; Human Genomic Research Group, Department of Biomedicine, University of Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hoffmann+P%22">Hoffmann P</searchLink>; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Institute of Medical Genetics and Pathology, University Hospital Basel, Switzerland.; Human Genomic Research Group, Department of Biomedicine, University of Basel, Switzerland.; Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany.<br /><searchLink fieldCode="AU" term="%22Müller+T%22">Müller T</searchLink>; Department of Bioinformatics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Dittrich+M%22">Dittrich M</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Department of Bioinformatics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bartsch+O%22">Bartsch O</searchLink>; Human Genetics Unit, Medical Care Centre, Johannes Gutenberg University Mainz, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+PM%22">Krawitz PM</searchLink>; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Klopocki+E%22">Klopocki E</searchLink>; Institute of Clinical Genetics and Genomic Medicine, University Hospital Würzburg, Würzburg, Germany.; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Shehata-Dieler+W%22">Shehata-Dieler W</searchLink>; 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Department of Otolaryngology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Haaf+T%22">Haaf T</searchLink>; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, Julius-Maximilians-University Würzburg, Würzburg, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.; Auditory Neuroscience and Optogenetics Laboratory, German Primate Center, Göttingen, Germany.; Collaborative Research Center 1690 (CRC1690), University of Göttingen, Göttingen, Germany.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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