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A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

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Title: A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.
Authors: Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany. felix.boschann@charite.de.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany. felix.boschann@charite.de., Kopp J; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Römer S; Department of Neonatology, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Küchler O; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Exploratory Diagnostic Sciences, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Lyubenova H; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., von Kügelgen N; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Core Unit Bioinformatics (CUBI), Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Hertstein E; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany., Hagelstein L; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany., Becker C; Cologne Center for Genomics, Medical Faculty, University of Cologne, Cologne, Germany.; West German Genome Center, University of Cologne, Cologne, Germany., Becker K; Cologne Center for Genomics, Medical Faculty, University of Cologne, Cologne, Germany.; West German Genome Center, University of Cologne, Cologne, Germany., Brachs S; Department of Endocrinology and Metabolism, European Reference Network on Rare Endocrine Diseases (ENDO-ERN), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Centre for Cardiovascular Research, partner site Berlin, Berlin, Germany.; Deutsches Zentrum für Diabetesforschung e.V., Geschäftsstelle am Helmholtz-Zentrum München, Neuherberg, Germany., Mai K; Department of Endocrinology and Metabolism, European Reference Network on Rare Endocrine Diseases (ENDO-ERN), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Centre for Cardiovascular Research, partner site Berlin, Berlin, Germany.; Deutsches Zentrum für Diabetesforschung e.V., Geschäftsstelle am Helmholtz-Zentrum München, Neuherberg, Germany.; Department of Human Nutrition, German Institute of Human Nutrition, Potsdam-Rehbruecke, Nuthetal, Germany.; Berlin Center for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Meierhofer D; Mass-Spectrometry Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany., Seelow D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Exploratory Diagnostic Sciences, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Mundlos S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany., Schuelke M; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany. bjoern.fischer@charite.de.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. bjoern.fischer@charite.de.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany. bjoern.fischer@charite.de.
Source: NPJ genomic medicine [NPJ Genom Med] 2026 Apr 03; Vol. 11 (1). Date of Electronic Publication: 2026 Apr 03.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.
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  Data: <searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany. felix.boschann@charite.de.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany. felix.boschann@charite.de.<br /><searchLink fieldCode="AU" term="%22Kopp+J%22">Kopp J</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Römer+S%22">Römer S</searchLink>; Department of Neonatology, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Küchler+O%22">Küchler O</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Exploratory Diagnostic Sciences, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Lyubenova+H%22">Lyubenova H</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22von+Kügelgen+N%22">von Kügelgen N</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Core Unit Bioinformatics (CUBI), Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Hertstein+E%22">Hertstein E</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Hagelstein+L%22">Hagelstein L</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+C%22">Becker C</searchLink>; Cologne Center for Genomics, Medical Faculty, University of Cologne, Cologne, Germany.; West German Genome Center, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+K%22">Becker K</searchLink>; Cologne Center for Genomics, Medical Faculty, University of Cologne, Cologne, Germany.; West German Genome Center, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Brachs+S%22">Brachs S</searchLink>; Department of Endocrinology and Metabolism, European Reference Network on Rare Endocrine Diseases (ENDO-ERN), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Centre for Cardiovascular Research, partner site Berlin, Berlin, Germany.; Deutsches Zentrum für Diabetesforschung e.V., Geschäftsstelle am Helmholtz-Zentrum München, Neuherberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mai+K%22">Mai K</searchLink>; Department of Endocrinology and Metabolism, European Reference Network on Rare Endocrine Diseases (ENDO-ERN), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Centre for Cardiovascular Research, partner site Berlin, Berlin, Germany.; Deutsches Zentrum für Diabetesforschung e.V., Geschäftsstelle am Helmholtz-Zentrum München, Neuherberg, Germany.; Department of Human Nutrition, German Institute of Human Nutrition, Potsdam-Rehbruecke, Nuthetal, Germany.; Berlin Center for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Meierhofer+D%22">Meierhofer D</searchLink>; Mass-Spectrometry Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Seelow+D%22">Seelow D</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; Exploratory Diagnostic Sciences, Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mundlos+S%22">Mundlos S</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Horn+D%22">Horn D</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Schuelke+M%22">Schuelke M</searchLink>; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Fischer-Zirnsak+B%22">Fischer-Zirnsak B</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin, Berlin, Germany. bjoern.fischer@charite.de.; FG Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. bjoern.fischer@charite.de.; German Center for Child and Adolescent Health (DZKJ), partner site Berlin, Berlin, Germany. bjoern.fischer@charite.de.
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