Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

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.

Bibliographic Details
Main Authors:	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
Format:	Article
Language:	English
Published:	Nature Portfolio 2022-11-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-022-34349-8

Internet

https://doi.org/10.1038/s41467-022-34349-8