Details
Title
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Author
Guo, Hui 1
; Bettella, Elisa 2 ; Marcogliese, Paul C 3
; Zhao, Rongjuan 4 ; Andrews, Jonathan C 3 ; Nowakowski, Tomasz J 5
; Gillentine, Madelyn A 6 ; Hoekzema, Kendra 6 ; Wang, Tianyun 1 ; Wu, Huidan 4 ; Jangam, Sharayu 3 ; Liu, Cenying 4 ; Ni, Hailun 4 ; Willemsen, Marjolein H 7 ; van Bon, Bregje W 8 ; Rinne, Tuula 8 ; Stevens, Servi J C 9 ; Kleefstra, Tjitske 8 ; Brunner, Han G 7 ; Yntema, Helger G 8 ; Long, Min 4 ; Zhao, Wenjing 4 ; Hu, Zhengmao 4 ; Colson, Cindy 10 ; Nicolas, Richard 10
; Schwartz, Charles E 11
; Romano, Corrado 12
; Castiglia, Lucia 12 ; Bottitta, Maria 12 ; Dhar, Shweta U 13 ; Erwin, Deanna J 13 ; Emrick, Lisa 13 ; Keren, Boris 14 ; Afenjar, Alexandra 15 ; Zhu, Baosheng 16 ; Bai, Bing 16 ; Stankiewicz, Pawel 13 ; Herman, Kristin 17 ; Nickerson, Deborah A 6 ; Bamshad, Michael J 18 ; Mercimek-Andrews, Saadet 19
; Juusola, Jane 20 ; Wilfert, Amy B 6
; Rami Abou Jamra 21
; Büttner, Benjamin 21 ; Mefford, Heather C 18 ; Muir, Alison M 18
; Scheffer, Ingrid E 22 ; Regan, Brigid M 22 ; Malone, Stephen 23 ; Gecz, Jozef 24
; Cobben, Jan 25 ; Weiss, Marjan M 26
; Waisfisz, Quinten 26 ; Bijlsma, Emilia K 27 ; Hoffer, Mariëtte J V 27 ; Ruivenkamp, Claudia A L 27 ; Sartori, Stefano 28
; Fan, Xia 13
; Rosenfeld, Jill A 13 ; Bernier, Raphael A 29 ; Wangler, Michael F 30 ; Yamamoto, Shinya 31
; Xia, Kun 32 ; Stegmann, Alexander P A 7 ; Bellen, Hugo J 33
; Murgia, Alessandra 34
; Eichler, Evan E 35
1 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
2 Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua, Padua, Italy; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Padua, Italy
3 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA
4 Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
5 UCSF Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA; UCSF Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA
6 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
7 Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
8 Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
9 Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
10 Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, Caen, France
11 Greenwood Genetic Center, Greenwood, SC, USA
12 Oasi Research Institute-IRCCS, Troina, Italy
13 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
14 Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris, France
15 APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, Paris, France
16 Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China; Medical Faculty, Kunming University of Science and Technology, Kunming, Yunnan, China
17 Section of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento, CA, USA
18 Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
19 Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
20 GeneDx, Gaithersburg, MD, USA
21 Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
22 Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne, VIC, Australia
23 Department of Neurosciences, Queensland Children’s Hospital, Brisbane, QLD, Australia
24 School of Medicine and the Robinson Research Institute, The University of Adelaide at the Women’s and Children’s Hospital, Adelaide, SA, Australia
25 Emma Children’s Hospital AUMC, Amsterdam, The Netherlands; North West Thames Genetics Service NHS, London, UK
26 Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands
27 Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
28 Paediatric Neurology and Neurophysiology Unit, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy
29 Department of Psychiatry, University of Washington, Seattle, WA, USA
30 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA
31 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA
32 Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan, China
33 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA
34 Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua, Padua, Italy
35 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
; Bettella, Elisa 2 ; Marcogliese, Paul C 3
; Zhao, Rongjuan 4 ; Andrews, Jonathan C 3 ; Nowakowski, Tomasz J 5
; Gillentine, Madelyn A 6 ; Hoekzema, Kendra 6 ; Wang, Tianyun 1 ; Wu, Huidan 4 ; Jangam, Sharayu 3 ; Liu, Cenying 4 ; Ni, Hailun 4 ; Willemsen, Marjolein H 7 ; van Bon, Bregje W 8 ; Rinne, Tuula 8 ; Stevens, Servi J C 9 ; Kleefstra, Tjitske 8 ; Brunner, Han G 7 ; Yntema, Helger G 8 ; Long, Min 4 ; Zhao, Wenjing 4 ; Hu, Zhengmao 4 ; Colson, Cindy 10 ; Nicolas, Richard 10
; Schwartz, Charles E 11
; Romano, Corrado 12
; Castiglia, Lucia 12 ; Bottitta, Maria 12 ; Dhar, Shweta U 13 ; Erwin, Deanna J 13 ; Emrick, Lisa 13 ; Keren, Boris 14 ; Afenjar, Alexandra 15 ; Zhu, Baosheng 16 ; Bai, Bing 16 ; Stankiewicz, Pawel 13 ; Herman, Kristin 17 ; Nickerson, Deborah A 6 ; Bamshad, Michael J 18 ; Mercimek-Andrews, Saadet 19
; Juusola, Jane 20 ; Wilfert, Amy B 6
; Rami Abou Jamra 21
; Büttner, Benjamin 21 ; Mefford, Heather C 18 ; Muir, Alison M 18
; Scheffer, Ingrid E 22 ; Regan, Brigid M 22 ; Malone, Stephen 23 ; Gecz, Jozef 24
; Cobben, Jan 25 ; Weiss, Marjan M 26
; Waisfisz, Quinten 26 ; Bijlsma, Emilia K 27 ; Hoffer, Mariëtte J V 27 ; Ruivenkamp, Claudia A L 27 ; Sartori, Stefano 28
; Fan, Xia 13
; Rosenfeld, Jill A 13 ; Bernier, Raphael A 29 ; Wangler, Michael F 30 ; Yamamoto, Shinya 31
; Xia, Kun 32 ; Stegmann, Alexander P A 7 ; Bellen, Hugo J 33
; Murgia, Alessandra 34
; Eichler, Evan E 35
1 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
2 Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua, Padua, Italy; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Padua, Italy
3 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA
4 Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
5 UCSF Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA; UCSF Department of Psychiatry, University of California, San Francisco, San Francisco, CA, USA; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA
6 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
7 Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
8 Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
9 Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
10 Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen, Caen, France
11 Greenwood Genetic Center, Greenwood, SC, USA
12 Oasi Research Institute-IRCCS, Troina, Italy
13 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
14 Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris, France
15 APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, GRCn°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, Paris, France
16 Department of Pediatrics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China; Medical Faculty, Kunming University of Science and Technology, Kunming, Yunnan, China
17 Section of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis, Sacramento, CA, USA
18 Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA
19 Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
20 GeneDx, Gaithersburg, MD, USA
21 Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
22 Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne, VIC, Australia
23 Department of Neurosciences, Queensland Children’s Hospital, Brisbane, QLD, Australia
24 School of Medicine and the Robinson Research Institute, The University of Adelaide at the Women’s and Children’s Hospital, Adelaide, SA, Australia
25 Emma Children’s Hospital AUMC, Amsterdam, The Netherlands; North West Thames Genetics Service NHS, London, UK
26 Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics, Amsterdam, Netherlands
27 Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
28 Paediatric Neurology and Neurophysiology Unit, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy
29 Department of Psychiatry, University of Washington, Seattle, WA, USA
30 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA
31 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA
32 Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan, China
33 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA
34 Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua, Padua, Italy
35 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA
Pages
1-17
Publication year
2019
Publication date
Oct 2019
e-ISSN
20411723
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2305794145
Copyright
© 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.