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Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
View ORCID ProfileNorine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, David Amor, Alfredo Brusco, E. Martina Bebin, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Elena Dadali, Julien Delafontaine, Ennio Del Giudice, Ganka Douglas, Tara Funari, Giuliana Giannuzzi, Nicolas Guex, Delphine Heron, Øystein L. Holla, Anna C.E. Hurst, Jane Juusola, David Kronn, Alexander Lavrov, Crystle Lee, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Victoria Sanders, Fabio Sirchia, Toshiki Takenouchi, Akemi J. Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti-Pierri, Wendy K. Chung, Alexandre Reymond
doi: https://doi.org/10.1101/693937
Norine Voisin
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
Rhonda E. Schnur
2GeneDx, Gaithersburg, MD 20877, USA
3Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ, 08103 USA
Sofia Douzgou
4Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK
5Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9NT, UK
Susan M. Hiatt
6HudsonAlpha Institute for Biotechnology, Huntsville AL, 35806 USA
Cecilie F. Rustad
7Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway
Natasha J. Brown
8Victorian Clinical Genetics Services, Flemington Road, Parkville, Victoria 3052, Australia
9Murdoch Children’s Research Institute, Flemington Road, Parkville, Victoria 3052, Australia
10Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
Dawn L. Earl
11Seattle Children’s, Seattle, WA 98105, USA
Boris Keren
12Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France
Olga Levchenko
13Research Centre for Medical Genetics, Moscow, 115522, Russia
Sinje Geuer
14Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany
15Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, 10117, Germany
David Amor
9Murdoch Children’s Research Institute, Flemington Road, Parkville, Victoria 3052, Australia
10Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
Alfredo Brusco
16Department of Medical Sciences, University of Torino, Torino, 10126 Italy
17Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy
E. Martina Bebin
18Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294 USA
Gerarda Cappuccio
19Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, 80131, Italy
Joel Charrow
20Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA
Nicolas Chatron
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
21Genetics Department, Lyon University Hospital, Lyon, 69007, France
Gregory M. Cooper
6HudsonAlpha Institute for Biotechnology, Huntsville AL, 35806 USA
Elena Dadali
13Research Centre for Medical Genetics, Moscow, 115522, Russia
Julien Delafontaine
22Swiss Institute of Bioinformatics (SIB), Lausanne, CH-1015, Switzerland
Ennio Del Giudice
19Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, 80131, Italy
Ganka Douglas
2GeneDx, Gaithersburg, MD 20877, USA
Tara Funari
2GeneDx, Gaithersburg, MD 20877, USA
Giuliana Giannuzzi
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
Nicolas Guex
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
22Swiss Institute of Bioinformatics (SIB), Lausanne, CH-1015, Switzerland
Delphine Heron
12Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France
Øystein L. Holla
23Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway
Anna C.E. Hurst
24Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35233, USA
Jane Juusola
2GeneDx, Gaithersburg, MD 20877, USA
David Kronn
25New York Medical College, Valhalla, NY 10595, USA
Alexander Lavrov
13Research Centre for Medical Genetics, Moscow, 115522, Russia
Crystle Lee
8Victorian Clinical Genetics Services, Flemington Road, Parkville, Victoria 3052, Australia
Else Merckoll
26Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway
Anna Mikhaleva
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
Jennifer Norman
27Integris Pediatric Neurology, Oklahoma City, OK 73112, USA
Sylvain Pradervand
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
22Swiss Institute of Bioinformatics (SIB), Lausanne, CH-1015, Switzerland
Victoria Sanders
20Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA
Fabio Sirchia
28Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, 34100, Italy
Toshiki Takenouchi
29Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo, 1608582, Japan
Akemi J. Tanaka
30Department of Pediatrics, Columbia University, New York, NY 10032, USA
31Department of Medicine, Columbia University, New York, NY 10032, USA
Heidi Taska-Tench
20Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 60611, USA
Elin Tønne
7Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway
Kristian Tveten
23Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway
Giuseppina Vitiello
19Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, 80131, Italy
Tomoko Uehara
29Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo, 1608582, Japan
Caroline Nava
12Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France
Binnaz Yalcin
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
32Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67404, France
Kenjiro Kosaki
29Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo, 1608582, Japan
Dian Donnai
4Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK
5Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, M13 9NT, UK
Stefan Mundlos
14Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany
15Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, 10117, Germany
Nicola Brunetti-Pierri
19Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, 80131, Italy
33Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, 80078, Italy
Wendy K. Chung
30Department of Pediatrics, Columbia University, New York, NY 10032, USA
31Department of Medicine, Columbia University, New York, NY 10032, USA
Alexandre Reymond
1Center for Integrative Genomics, University of Lausanne, Lausanne, CH-1015, Switzerland
Posted July 17, 2019.
Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, David Amor, Alfredo Brusco, E. Martina Bebin, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Elena Dadali, Julien Delafontaine, Ennio Del Giudice, Ganka Douglas, Tara Funari, Giuliana Giannuzzi, Nicolas Guex, Delphine Heron, Øystein L. Holla, Anna C.E. Hurst, Jane Juusola, David Kronn, Alexander Lavrov, Crystle Lee, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Victoria Sanders, Fabio Sirchia, Toshiki Takenouchi, Akemi J. Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti-Pierri, Wendy K. Chung, Alexandre Reymond
bioRxiv 693937; doi: https://doi.org/10.1101/693937
Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, David Amor, Alfredo Brusco, E. Martina Bebin, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Elena Dadali, Julien Delafontaine, Ennio Del Giudice, Ganka Douglas, Tara Funari, Giuliana Giannuzzi, Nicolas Guex, Delphine Heron, Øystein L. Holla, Anna C.E. Hurst, Jane Juusola, David Kronn, Alexander Lavrov, Crystle Lee, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Victoria Sanders, Fabio Sirchia, Toshiki Takenouchi, Akemi J. Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti-Pierri, Wendy K. Chung, Alexandre Reymond
bioRxiv 693937; doi: https://doi.org/10.1101/693937
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