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. |
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| 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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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-026-00564-1 |
