Nature Communications (Oct 2019)
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
- Hui Guo,
- Elisa Bettella,
- Paul C. Marcogliese,
- Rongjuan Zhao,
- Jonathan C. Andrews,
- Tomasz J. Nowakowski,
- Madelyn A. Gillentine,
- Kendra Hoekzema,
- Tianyun Wang,
- Huidan Wu,
- Sharayu Jangam,
- Cenying Liu,
- Hailun Ni,
- Marjolein H. Willemsen,
- Bregje W. van Bon,
- Tuula Rinne,
- Servi J. C. Stevens,
- Tjitske Kleefstra,
- Han G. Brunner,
- Helger G. Yntema,
- Min Long,
- Wenjing Zhao,
- Zhengmao Hu,
- Cindy Colson,
- Nicolas Richard,
- Charles E. Schwartz,
- Corrado Romano,
- Lucia Castiglia,
- Maria Bottitta,
- Shweta U. Dhar,
- Deanna J. Erwin,
- Lisa Emrick,
- Boris Keren,
- Alexandra Afenjar,
- Baosheng Zhu,
- Bing Bai,
- Pawel Stankiewicz,
- Kristin Herman,
- University of Washington Center for Mendelian Genomics,
- Saadet Mercimek-Andrews,
- Jane Juusola,
- Amy B. Wilfert,
- Rami Abou Jamra,
- Benjamin Büttner,
- Heather C. Mefford,
- Alison M. Muir,
- Ingrid E. Scheffer,
- Brigid M. Regan,
- Stephen Malone,
- Jozef Gecz,
- Jan Cobben,
- Marjan M. Weiss,
- Quinten Waisfisz,
- Emilia K. Bijlsma,
- Mariëtte J. V. Hoffer,
- Claudia A. L. Ruivenkamp,
- Stefano Sartori,
- Fan Xia,
- Jill A. Rosenfeld,
- Raphael A. Bernier,
- Michael F. Wangler,
- Shinya Yamamoto,
- Kun Xia,
- Alexander P. A. Stegmann,
- Hugo J. Bellen,
- Alessandra Murgia,
- Evan E. Eichler
Affiliations
- Hui Guo
- Department of Genome Sciences, University of Washington School of Medicine
- Elisa Bettella
- Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua
- Paul C. Marcogliese
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Rongjuan Zhao
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Jonathan C. Andrews
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Tomasz J. Nowakowski
- UCSF Department of Anatomy, University of California, San Francisco
- Madelyn A. Gillentine
- Department of Genome Sciences, University of Washington School of Medicine
- Kendra Hoekzema
- Department of Genome Sciences, University of Washington School of Medicine
- Tianyun Wang
- Department of Genome Sciences, University of Washington School of Medicine
- Huidan Wu
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Sharayu Jangam
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Cenying Liu
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Hailun Ni
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Marjolein H. Willemsen
- Department of Human Genetics, Radboud University Medical Center
- Bregje W. van Bon
- Department of Human Genetics, Radboud University Medical Center
- Tuula Rinne
- Department of Human Genetics, Radboud University Medical Center
- Servi J. C. Stevens
- Department of Clinical Genetics, Maastricht University Medical Center
- Tjitske Kleefstra
- Department of Human Genetics, Radboud University Medical Center
- Han G. Brunner
- Department of Human Genetics, Radboud University Medical Center
- Helger G. Yntema
- Department of Human Genetics, Radboud University Medical Center
- Min Long
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Wenjing Zhao
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Zhengmao Hu
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Cindy Colson
- Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen
- Nicolas Richard
- Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGen
- Charles E. Schwartz
- Greenwood Genetic Center
- Corrado Romano
- Oasi Research Institute-IRCCS
- Lucia Castiglia
- Oasi Research Institute-IRCCS
- Maria Bottitta
- Oasi Research Institute-IRCCS
- Shweta U. Dhar
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Deanna J. Erwin
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Lisa Emrick
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Boris Keren
- Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris
- Alexandra Afenjar
- 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
- Baosheng Zhu
- Department of Pediatrics, The First People’s Hospital of Yunnan Province
- Bing Bai
- Department of Pediatrics, The First People’s Hospital of Yunnan Province
- Pawel Stankiewicz
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Kristin Herman
- Section of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, Davis
- University of Washington Center for Mendelian Genomics
- Saadet Mercimek-Andrews
- Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children
- Jane Juusola
- GeneDx
- Amy B. Wilfert
- Department of Genome Sciences, University of Washington School of Medicine
- Rami Abou Jamra
- Institute of Human Genetics, University of Leipzig Medical Center
- Benjamin Büttner
- Institute of Human Genetics, University of Leipzig Medical Center
- Heather C. Mefford
- Department of Pediatrics, Division of Genetic Medicine, University of Washington
- Alison M. Muir
- Department of Pediatrics, Division of Genetic Medicine, University of Washington
- Ingrid E. Scheffer
- Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s Hospital
- Brigid M. Regan
- Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s Hospital
- Stephen Malone
- Department of Neurosciences, Queensland Children’s Hospital
- Jozef Gecz
- School of Medicine and the Robinson Research Institute, The University of Adelaide at the Women’s and Children’s Hospital
- Jan Cobben
- Emma Children’s Hospital AUMC
- Marjan M. Weiss
- Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics
- Quinten Waisfisz
- Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical Genetics
- Emilia K. Bijlsma
- Department of Clinical Genetics, Leiden University Medical Center
- Mariëtte J. V. Hoffer
- Department of Clinical Genetics, Leiden University Medical Center
- Claudia A. L. Ruivenkamp
- Department of Clinical Genetics, Leiden University Medical Center
- Stefano Sartori
- Paediatric Neurology and Neurophysiology Unit, Department of Women’s and Children’s Health, University Hospital of Padua
- Fan Xia
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Jill A. Rosenfeld
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Raphael A. Bernier
- Department of Psychiatry, University of Washington
- Michael F. Wangler
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Shinya Yamamoto
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Kun Xia
- Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University
- Alexander P. A. Stegmann
- Department of Human Genetics, Radboud University Medical Center
- Hugo J. Bellen
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Alessandra Murgia
- Laboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of Padua
- Evan E. Eichler
- Department of Genome Sciences, University of Washington School of Medicine
- DOI
- https://doi.org/10.1038/s41467-019-12435-8
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 17
Abstract
Neurodevelopmental disorders (NDDs) are a heterogeneous group of diseases for which the genetic basis is still unknown in more than half of the cases. Here, the authors report a NDD associated with disruptive variants in the TANC2 gene and show that rols, the TANC2 homolog in flies, is required for synapse growth and function.
