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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

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Title: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Authors: Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Cabrera-Orefice A; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany; Institute of Biochemistry, Medical Faculty, Justus-Liebig-University, 35392 Giessen, Germany., Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Bharadwaj T; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA., Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Oláhová M; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Kaur N; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Shukla A; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Abukhalid M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad 45320, Pakistan., Rehman S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia., Mancilar H; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Tumer S; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Esen FN; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Uctepe E; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Topcu V; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Yesilyurt A; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Afzal E; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan., Salari M; Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Carroll C; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Kor D; Cukurova University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Adana, Turkey., Bulut FD; Cukurova University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Adana, Turkey., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Carrera S; Genome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Jamieson P; Department of Radiology, Manchester University Hospital NHS Foundation Trust, Manchester M13 9PW, UK., Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Leal SM; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA., Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Wittig I; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Rhein Main, 60596 Frankfurt am Main, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: rokeefe@manchester.ac.uk., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.
Source: American journal of human genetics [Am J Hum Genet] 2025 Apr 03; Vol. 112 (4), pp. 952-962. Date of Electronic Publication: 2025 Mar 04.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
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              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1