CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

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Autores principales:	Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/2f149b8196854879821d3ece66218bf2
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spelling	oai:doaj.org-article:2f149b8196854879821d3ece66218bf22021-12-02T14:39:04ZCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language10.1038/s41467-018-06014-62041-1723https://doaj.org/article/2f149b8196854879821d3ece66218bf22018-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06014-6https://doaj.org/toc/2041-1723Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.Lot Snijders BlokJustine RousseauJoanna TwistSophie EhresmannMotoki TakakuHanka VenselaarLance H. RodanCatherine B. NowakJessica DouglasKathryn J. SwobodaMarcie A. SteevesInderneel SahaiConnie T. R. M. StumpelAlexander P. A. StegmannPatricia WheelerMarcia WillingElise FialaAaina KochharWilliam T. GibsonAna S. A. CohenRuky AgbahovbeA. Micheil InnesP. Y. Billie AuJulia RankinIlse J. AndersonSteven A. SkinnerRaymond J. LouieHannah E. WarrenAlexandra AfenjarBoris KerenCaroline NavaJulien BurattiArnaud IsapofDiana RodriguezRaymond LewandowskiJennifer PropstTon van EssenMurim ChoiSangmoon LeeJong H. ChaeSusan PriceRhonda E. SchnurGanka DouglasIngrid M. WentzensenChristiane ZweierAndré ReisMartin G. BialerChristine MooreMarije KoopmansEva H. BrilstraGlen R. MonroeKoen L. I. van GassenEllen van BinsbergenRuth Newbury-EcobLucy BownassIngrid BaderJohannes A. MayrSaskia B. WortmannKathy J. JakielskiEdythe A. StrandKatja KlothTatjana BierhalsThe DDD studyJohn D. RobertsRobert M. PetrovichShinichi MachidaHitoshi KurumizakaStefan LelieveldRolph PfundtSandra JansenPelagia DeriziotisLaurence FaivreJulien ThevenonMirna AssoumLawrence ShribergTjitske KleefstraHan G. BrunnerPaul A. WadeSimon E. FisherPhilippe M. CampeauNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H. Rodan Catherine B. Nowak Jessica Douglas Kathryn J. Swoboda Marcie A. Steeves Inderneel Sahai Connie T. R. M. Stumpel Alexander P. A. Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T. Gibson Ana S. A. Cohen Ruky Agbahovbe A. Micheil Innes P. Y. Billie Au Julia Rankin Ilse J. Anderson Steven A. Skinner Raymond J. Louie Hannah E. Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H. Chae Susan Price Rhonda E. Schnur Ganka Douglas Ingrid M. Wentzensen Christiane Zweier André Reis Martin G. Bialer Christine Moore Marije Koopmans Eva H. Brilstra Glen R. Monroe Koen L. I. van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A. Mayr Saskia B. Wortmann Kathy J. Jakielski Edythe A. Strand Katja Kloth Tatjana Bierhals The DDD study John D. Roberts Robert M. Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G. Brunner Paul A. Wade Simon E. Fisher Philippe M. Campeau CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
description	Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
format	article
author	Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H. Rodan Catherine B. Nowak Jessica Douglas Kathryn J. Swoboda Marcie A. Steeves Inderneel Sahai Connie T. R. M. Stumpel Alexander P. A. Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T. Gibson Ana S. A. Cohen Ruky Agbahovbe A. Micheil Innes P. Y. Billie Au Julia Rankin Ilse J. Anderson Steven A. Skinner Raymond J. Louie Hannah E. Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H. Chae Susan Price Rhonda E. Schnur Ganka Douglas Ingrid M. Wentzensen Christiane Zweier André Reis Martin G. Bialer Christine Moore Marije Koopmans Eva H. Brilstra Glen R. Monroe Koen L. I. van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A. Mayr Saskia B. Wortmann Kathy J. Jakielski Edythe A. Strand Katja Kloth Tatjana Bierhals The DDD study John D. Roberts Robert M. Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G. Brunner Paul A. Wade Simon E. Fisher Philippe M. Campeau
author_facet	Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H. Rodan Catherine B. Nowak Jessica Douglas Kathryn J. Swoboda Marcie A. Steeves Inderneel Sahai Connie T. R. M. Stumpel Alexander P. A. Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T. Gibson Ana S. A. Cohen Ruky Agbahovbe A. Micheil Innes P. Y. Billie Au Julia Rankin Ilse J. Anderson Steven A. Skinner Raymond J. Louie Hannah E. Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H. Chae Susan Price Rhonda E. Schnur Ganka Douglas Ingrid M. Wentzensen Christiane Zweier André Reis Martin G. Bialer Christine Moore Marije Koopmans Eva H. Brilstra Glen R. Monroe Koen L. I. van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A. Mayr Saskia B. Wortmann Kathy J. Jakielski Edythe A. Strand Katja Kloth Tatjana Bierhals The DDD study John D. Roberts Robert M. Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G. Brunner Paul A. Wade Simon E. Fisher Philippe M. Campeau
author_sort	Lot Snijders Blok
title	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
title_short	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
title_full	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
title_fullStr	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
title_full_unstemmed	CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
title_sort	chd3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/2f149b8196854879821d3ece66218bf2
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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