Nature Communications (Nov 2022)
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
- Laura J. Grange,
- John J. Reynolds,
- Farid Ullah,
- Bertrand Isidor,
- Robert F. Shearer,
- Xenia Latypova,
- Ryan M. Baxley,
- Antony W. Oliver,
- Anil Ganesh,
- Sophie L. Cooke,
- Satpal S. Jhujh,
- Gavin S. McNee,
- Robert Hollingworth,
- Martin R. Higgs,
- Toyoaki Natsume,
- Tahir Khan,
- Gabriel Á. Martos-Moreno,
- Sharon Chupp,
- Christopher G. Mathew,
- David Parry,
- Michael A. Simpson,
- Nahid Nahavandi,
- Zafer Yüksel,
- Mojgan Drasdo,
- Anja Kron,
- Petra Vogt,
- Annemarie Jonasson,
- Saad Ahmed Seth,
- Claudia Gonzaga-Jauregui,
- Karlla W. Brigatti,
- Alexander P. A. Stegmann,
- Masato Kanemaki,
- Dragana Josifova,
- Yuri Uchiyama,
- Yukiko Oh,
- Akira Morimoto,
- Hitoshi Osaka,
- Zineb Ammous,
- Jesús Argente,
- Naomichi Matsumoto,
- Constance T.R.M. Stumpel,
- Alexander M. R. Taylor,
- Andrew P. Jackson,
- Anja-Katrin Bielinsky,
- Niels Mailand,
- Cedric Le Caignec,
- Erica E. Davis,
- Grant S. Stewart
Affiliations
- Laura J. Grange
- Institute of Cancer and Genomic Sciences, University of Birmingham
- John J. Reynolds
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Farid Ullah
- Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children’s Research Institute, Ann & Robert H Lurie Children’s Hospital of Chicago
- Bertrand Isidor
- Service de Génétique Médicale, CHU Nantes
- Robert F. Shearer
- Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen
- Xenia Latypova
- Service de Génétique Médicale, CHU Nantes
- Ryan M. Baxley
- Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota
- Antony W. Oliver
- Genome Damage and Stability Centre, Science Park Road, University of Sussex, Falmer
- Anil Ganesh
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Sophie L. Cooke
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Satpal S. Jhujh
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Gavin S. McNee
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Robert Hollingworth
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Martin R. Higgs
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Toyoaki Natsume
- Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS)
- Tahir Khan
- Center for Human Disease Modeling, Duke University Medical Center
- Gabriel Á. Martos-Moreno
- Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid
- Sharon Chupp
- The Community Health Clinic
- Christopher G. Mathew
- Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand
- David Parry
- MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh
- Michael A. Simpson
- Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, Guy’s Hospital, King’s College London
- Nahid Nahavandi
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Zafer Yüksel
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Mojgan Drasdo
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Anja Kron
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Petra Vogt
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Annemarie Jonasson
- Bioscientia Institute for Medical Diagnostics, Human Genetics
- Saad Ahmed Seth
- King Fahad Military Medical Complex
- Claudia Gonzaga-Jauregui
- Regeneron Genetics Center, Regeneron Pharmaceuticals Inc.
- Karlla W. Brigatti
- Clinic for Special Children
- Alexander P. A. Stegmann
- Department of Clinical Genetics, Maastricht University Medical Center
- Masato Kanemaki
- Department of Genetics, The Graduate University for Advanced Studies (SOKENDAI)
- Dragana Josifova
- Clinical Genetics Department, Guy’s Hospital
- Yuri Uchiyama
- Department of Rare Disease Genomics, Yokohama City University Hospital
- Yukiko Oh
- Department of Paediatrics, Jichi Medical University School of Medicine
- Akira Morimoto
- Department of Paediatrics, Jichi Medical University School of Medicine
- Hitoshi Osaka
- Department of Paediatrics, Jichi Medical University School of Medicine
- Zineb Ammous
- The Community Health Clinic
- Jesús Argente
- Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid
- Naomichi Matsumoto
- Department of Rare Disease Genomics, Yokohama City University Hospital
- Constance T.R.M. Stumpel
- Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center
- Alexander M. R. Taylor
- Institute of Cancer and Genomic Sciences, University of Birmingham
- Andrew P. Jackson
- MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh
- Anja-Katrin Bielinsky
- Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota
- Niels Mailand
- Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen
- Cedric Le Caignec
- Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale and ToNIC, Toulouse NeuroImaging Center, Inserm, UPS, Université de Toulouse
- Erica E. Davis
- Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children’s Research Institute, Ann & Robert H Lurie Children’s Hospital of Chicago
- Grant S. Stewart
- Institute of Cancer and Genomic Sciences, University of Birmingham
- DOI
- https://doi.org/10.1038/s41467-022-34349-8
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 22
Abstract
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
