Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-11-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-34349-8 |
| _version_ | 1811328986369753088 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Laura J. Grange |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T15:35:48Z |
| format | Article |
| id | doaj.art-bfe3845b80824c5996d10d21e1575e9d |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-04-13T15:35:48Z |
| publishDate | 2022-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-bfe3845b80824c5996d10d21e1575e9d2022-12-22T02:41:16ZengNature PortfolioNature Communications2041-17232022-11-0113112210.1038/s41467-022-34349-8Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J. Grange0John J. Reynolds1Farid Ullah2Bertrand Isidor3Robert F. Shearer4Xenia Latypova5Ryan M. Baxley6Antony W. Oliver7Anil Ganesh8Sophie L. Cooke9Satpal S. Jhujh10Gavin S. McNee11Robert Hollingworth12Martin R. Higgs13Toyoaki Natsume14Tahir Khan15Gabriel Á. Martos-Moreno16Sharon Chupp17Christopher G. Mathew18David Parry19Michael A. Simpson20Nahid Nahavandi21Zafer Yüksel22Mojgan Drasdo23Anja Kron24Petra Vogt25Annemarie Jonasson26Saad Ahmed Seth27Claudia Gonzaga-Jauregui28Karlla W. Brigatti29Alexander P. A. Stegmann30Masato Kanemaki31Dragana Josifova32Yuri Uchiyama33Yukiko Oh34Akira Morimoto35Hitoshi Osaka36Zineb Ammous37Jesús Argente38Naomichi Matsumoto39Constance T.R.M. Stumpel40Alexander M. R. Taylor41Andrew P. Jackson42Anja-Katrin Bielinsky43Niels Mailand44Cedric Le Caignec45Erica E. Davis46Grant S. Stewart47Institute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamAdvanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children’s Research Institute, Ann & Robert H Lurie Children’s Hospital of ChicagoService de Génétique Médicale, CHU NantesNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of CopenhagenService de Génétique Médicale, CHU NantesDepartment of Biochemistry, Molecular Biology and Biophysics, University of MinnesotaGenome Damage and Stability Centre, Science Park Road, University of Sussex, FalmerInstitute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamInstitute of Cancer and Genomic Sciences, University of BirminghamDepartment of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS)Center for Human Disease Modeling, Duke University Medical CenterHospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de MadridThe Community Health ClinicSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the WitwatersrandMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of EdinburghDepartment of Medical and Molecular Genetics, Faculty of Life Science and Medicine, Guy’s Hospital, King’s College LondonBioscientia Institute for Medical Diagnostics, Human GeneticsBioscientia Institute for Medical Diagnostics, Human GeneticsBioscientia Institute for Medical Diagnostics, Human GeneticsBioscientia Institute for Medical Diagnostics, Human GeneticsBioscientia Institute for Medical Diagnostics, Human GeneticsBioscientia Institute for Medical Diagnostics, Human GeneticsKing Fahad Military Medical ComplexRegeneron Genetics Center, Regeneron Pharmaceuticals Inc.Clinic for Special ChildrenDepartment of Clinical Genetics, Maastricht University Medical CenterDepartment of Genetics, The Graduate University for Advanced Studies (SOKENDAI)Clinical Genetics Department, Guy’s HospitalDepartment of Rare Disease Genomics, Yokohama City University HospitalDepartment of Paediatrics, Jichi Medical University School of MedicineDepartment of Paediatrics, Jichi Medical University School of MedicineDepartment of Paediatrics, Jichi Medical University School of MedicineThe Community Health ClinicHospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de MadridDepartment of Rare Disease Genomics, Yokohama City University HospitalDepartment of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical CenterInstitute of Cancer and Genomic Sciences, University of BirminghamMRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of EdinburghDepartment of Biochemistry, Molecular Biology and Biophysics, University of MinnesotaNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of CopenhagenCentre Hospitalier Universitaire Toulouse, Service de Génétique Médicale and ToNIC, Toulouse NeuroImaging Center, Inserm, UPS, Université de ToulouseAdvanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children’s Research Institute, Ann & Robert H Lurie Children’s Hospital of ChicagoInstitute of Cancer and Genomic Sciences, University of BirminghamThe 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.https://doi.org/10.1038/s41467-022-34349-8 |
| spellingShingle | 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 Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy Nature Communications |
| title | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy |
| title_full | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy |
| title_fullStr | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy |
| title_full_unstemmed | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy |
| title_short | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy |
| title_sort | pathogenic variants in slf2 and smc5 cause segmented chromosomes and mosaic variegated hyperploidy |
| url | https://doi.org/10.1038/s41467-022-34349-8 |
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