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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/663adb56ce6f405da787645af9303af8
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spelling	oai:doaj.org-article:663adb56ce6f405da787645af9303af82021-12-02T14:39:16ZDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders10.1038/s41467-019-12435-82041-1723https://doaj.org/article/663adb56ce6f405da787645af9303af82019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12435-8https://doaj.org/toc/2041-1723Neurodevelopmental 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.Hui GuoElisa BettellaPaul C. MarcoglieseRongjuan ZhaoJonathan C. AndrewsTomasz J. NowakowskiMadelyn A. GillentineKendra HoekzemaTianyun WangHuidan WuSharayu JangamCenying LiuHailun NiMarjolein H. WillemsenBregje W. van BonTuula RinneServi J. C. StevensTjitske KleefstraHan G. BrunnerHelger G. YntemaMin LongWenjing ZhaoZhengmao HuCindy ColsonNicolas RichardCharles E. SchwartzCorrado RomanoLucia CastigliaMaria BottittaShweta U. DharDeanna J. ErwinLisa EmrickBoris KerenAlexandra AfenjarBaosheng ZhuBing BaiPawel StankiewiczKristin HermanUniversity of Washington Center for Mendelian GenomicsSaadet Mercimek-AndrewsJane JuusolaAmy B. WilfertRami Abou JamraBenjamin BüttnerHeather C. MeffordAlison M. MuirIngrid E. SchefferBrigid M. ReganStephen MaloneJozef GeczJan CobbenMarjan M. WeissQuinten WaisfiszEmilia K. BijlsmaMariëtte J. V. HofferClaudia A. L. RuivenkampStefano SartoriFan XiaJill A. RosenfeldRaphael A. BernierMichael F. WanglerShinya YamamotoKun XiaAlexander P. A. StegmannHugo J. BellenAlessandra MurgiaEvan E. EichlerNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
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 Portfolio
publishDate	2019
url	https://doaj.org/article/663adb56ce6f405da787645af9303af8
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

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