Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

Autor: Smith, Thomas B. ^{1, 2, 26}, Kopajtich, Robert ^{3, 4, 26}, Demain, Leigh A.M. ^{1, 2}, Rea, Alessandro ^{1, 2}, Thomas, Huw B. ^{1, 2}, Schiff, Manuel ^{5, 6}, Beetz, Christian ⁷, Joss, Shelagh ⁸, Conway, Gerard S. ⁹, Shukla, Anju ¹⁰, Yeole, Mayuri ¹⁰, Radhakrishnan, Periyasamy ¹⁰, Azzouz, Hatem ¹¹, Ben Chehida, Amel ¹², Elmaleh-Bergès, Monique ¹³, Glasgow, Ruth I.C. ¹⁴, Thompson, Kyle ¹⁵, Oláhová, Monika ^{15, 16}, He, Langping ¹⁷, Jenkinson, Emma M. ^{1, 2}, Jahic, Amir ¹⁸, Belyantseva, Inna A. ¹⁹, Barzik, Melanie ¹⁹, Urquhart, Jill E. ^{1, 2}, O’Sullivan, James ^{1, 2}, Williams, Simon G. ^{1, 2}, Bhaskar, Sanjeev S. ^{1, 2}, Carrera, Samantha ²⁰, Blakes, Alexander J.M. ^{1, 2}, Banka, Siddharth ^{1, 2}, Yue, Wyatt W. ²¹, Ellingford, Jamie M. ^{1, 2, 22}, Houlden, Henry ²³, Munro, Kevin J. ²⁵, Friedman, Thomas B. ¹⁹, Taylor, Robert W. ^{15, 17}, Prokisch, Holger ^{3, 4, 27}, O’Keefe, Raymond T. ^{1, 2, 27, ∗}, Newman, William G. ^{1, 2, 27, ∗∗}

Publikováno v: In The American Journal of Human Genetics 2 January 2025 112(1):59-74

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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Autor: Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France; INSERM UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France., Beetz C; Centogene GmbH, Rostock, Germany., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Conway GS; Institute for Women's Health, University College London, London, UK., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Azzouz H; Service de Pédiatrie et des Maladies Métaboliques Héréditaires, Centre Hospitalier Universitaire la Rabta, Jabberi 1007, Tunis, Tunisia., Ben Chehida A; Laboratoire de Recherche LR12SP02, Maladies Métaboliques Héréditaires Investigations et Prise en Charge, Service de Pédiatrie et des Maladies Métaboliques Héréditaires, Centre Hospitalier Universitaire la Rabta, Jabberi 1007, Tunis, Tunisia., Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, Assistance Publique-Hôpitaux de Paris, Paris, France., Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65 Stockholm, Sweden., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Department of Applied Sciences, Faculty of Health and Life Sciences, Northumbria University, Newcastle upon Tyne, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité-Universitätsmedizin Berlin, Berlin, Germany., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, USA., Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., O'Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Carrera S; Genome Editing Unit, University of Manchester, Manchester M13 9PT, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK., Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK; Genomics England, London, UK., Houlden H; Department of Molecular Neuroscience, University College London Queen Square Institute of Neurology, London, UK., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892-3729, 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., Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester 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, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address: william.newman@manchester.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Dec 14. Date of Electronic Publication: 2024 Dec 14.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Autor: Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Kopajtich R; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Schiff M; Université Paris Cité, Reference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Filière G2M, Paris, France.; Inserm UMR_S1163, Institut Imagine, Université Paris Cité, Paris, France., Beetz C; Centogene GmbH, Rostock, Germany., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Conway GS; Institute for Women's Health, University College London, London, United Kingdom., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Azzouz H; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Ben Chehida A; Service de pédiatrie et des maladies métaboliques héréditaires, CHU la Rabta, 1007 Jabberi, Tunis, Tunisia., Elmaleh-Bergès M; Service de Radiologie Pédiatrique, Hôpital Robert-Debré, APHP, Paris, France., Glasgow RIC; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65, Stockholm, Sweden., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Oláhová M; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Jenkinson EM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Jahic A; Institute of Diagnostic Laboratory Medicine, Clinical Chemistry and Pathobiochemistry, Charité - Universitätsmedizin Berlin, Berlin, Germany., Belyantseva IA; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Barzik M; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, USA., Urquhart JE; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., O' Sullivan J; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Williams SG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Bhaskar SS; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Carrera S; Genome Editing Unit, The University of Manchester, Manchester, M13 9PT, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.; Genomics England, London, UK., Houlden H; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, United Kingdom., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, The University of Manchester, Manchester, UK., Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892-3729, 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., Prokisch H; Institute of Human Genetics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, 81675, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, The University of Manchester NHS Foundation Trust, Manchester, M13 9WL, UK.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 21. Date of Electronic Publication: 2024 Aug 21.