Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2019-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-12435-8 |
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DOAJ |
| language |
English |
| format |
Article |
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DOAJ |
| author |
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 |
| spellingShingle |
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 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Nature Communications |
| author_facet |
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 |
| author_sort |
Hui Guo |
| title |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| title_short |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| title_full |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| title_fullStr |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| title_full_unstemmed |
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| title_sort |
disruptive mutations in tanc2 define a neurodevelopmental syndrome associated with psychiatric disorders |
| publisher |
Nature Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2019-10-01 |
| description |
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. |
| url |
https://doi.org/10.1038/s41467-019-12435-8 |
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doaj-663adb56ce6f405da787645af9303af82021-05-11T11:44:09ZengNature Publishing GroupNature Communications2041-17232019-10-0110111710.1038/s41467-019-12435-8Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo0Elisa Bettella1Paul C. Marcogliese2Rongjuan Zhao3Jonathan C. Andrews4Tomasz J. Nowakowski5Madelyn A. Gillentine6Kendra Hoekzema7Tianyun Wang8Huidan Wu9Sharayu Jangam10Cenying Liu11Hailun Ni12Marjolein H. Willemsen13Bregje W. van Bon14Tuula Rinne15Servi J. C. Stevens16Tjitske Kleefstra17Han G. Brunner18Helger G. Yntema19Min Long20Wenjing Zhao21Zhengmao Hu22Cindy Colson23Nicolas Richard24Charles E. Schwartz25Corrado Romano26Lucia Castiglia27Maria Bottitta28Shweta U. Dhar29Deanna J. Erwin30Lisa Emrick31Boris Keren32Alexandra Afenjar33Baosheng Zhu34Bing Bai35Pawel Stankiewicz36Kristin Herman37University of Washington Center for Mendelian GenomicsSaadet Mercimek-Andrews38Jane Juusola39Amy B. Wilfert40Rami Abou Jamra41Benjamin Büttner42Heather C. Mefford43Alison M. Muir44Ingrid E. Scheffer45Brigid M. Regan46Stephen Malone47Jozef Gecz48Jan Cobben49Marjan M. Weiss50Quinten Waisfisz51Emilia K. Bijlsma52Mariëtte J. V. Hoffer53Claudia A. L. Ruivenkamp54Stefano Sartori55Fan Xia56Jill A. Rosenfeld57Raphael A. Bernier58Michael F. Wangler59Shinya Yamamoto60Kun Xia61Alexander P. A. Stegmann62Hugo J. Bellen63Alessandra Murgia64Evan E. Eichler65Department of Genome Sciences, University of Washington School of MedicineLaboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of PaduaDepartment of Molecular and Human Genetics, Baylor College of MedicineCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityDepartment of Molecular and Human Genetics, Baylor College of MedicineUCSF Department of Anatomy, University of California, San FranciscoDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityDepartment of Molecular and Human Genetics, Baylor College of MedicineCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityDepartment of Human Genetics, Radboud University Medical CenterDepartment of Human Genetics, Radboud University Medical CenterDepartment of Human Genetics, Radboud University Medical CenterDepartment of Clinical Genetics, Maastricht University Medical CenterDepartment of Human Genetics, Radboud University Medical CenterDepartment of Human Genetics, Radboud University Medical CenterDepartment of Human Genetics, Radboud University Medical CenterCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityNormandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGenNormandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, EA7450 BioTARGenGreenwood Genetic CenterOasi Research Institute-IRCCSOasi Research Institute-IRCCSOasi Research Institute-IRCCSDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Molecular and Human Genetics, Baylor College of MedicineDépartement de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de ParisAPHP, 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 TrousseauDepartment of Pediatrics, The First People’s Hospital of Yunnan ProvinceDepartment of Pediatrics, The First People’s Hospital of Yunnan ProvinceDepartment of Molecular and Human Genetics, Baylor College of MedicineSection of Medical Genomics, Medical Investigation of Neurodevelopmental Disorders Institute, University of California, DavisDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick ChildrenGeneDxDepartment of Genome Sciences, University of Washington School of MedicineInstitute of Human Genetics, University of Leipzig Medical CenterInstitute of Human Genetics, University of Leipzig Medical CenterDepartment of Pediatrics, Division of Genetic Medicine, University of WashingtonDepartment of Pediatrics, Division of Genetic Medicine, University of WashingtonDepartments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s HospitalDepartments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s HospitalDepartment of Neurosciences, Queensland Children’s HospitalSchool of Medicine and the Robinson Research Institute, The University of Adelaide at the Women’s and Children’s HospitalEmma Children’s Hospital AUMCAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical GeneticsAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Clinical GeneticsDepartment of Clinical Genetics, Leiden University Medical CenterDepartment of Clinical Genetics, Leiden University Medical CenterDepartment of Clinical Genetics, Leiden University Medical CenterPaediatric Neurology and Neurophysiology Unit, Department of Women’s and Children’s Health, University Hospital of PaduaDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Psychiatry, University of WashingtonDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Molecular and Human Genetics, Baylor College of MedicineCenter for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South UniversityDepartment of Human Genetics, Radboud University Medical CenterDepartment of Molecular and Human Genetics, Baylor College of MedicineLaboratory of Molecular Genetics of Neurodevelopment, Department of Women’s and Children’s Health, University of PaduaDepartment of Genome Sciences, University of Washington School of MedicineNeurodevelopmental 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.https://doi.org/10.1038/s41467-019-12435-8 |