Accès ouvert déclaré 2018 article

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

Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Bearce Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia C. Willing, Elise M. Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, Allan Micheil Innes, Ping Yee 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 P Rodriguez, Raymond C. Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan M Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth A Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes Adalbert Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, PHILIP M. JONES, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley L Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela J Barnicoat, Paul J. Batstone, David U. Baty, Christopher P. A. Bennett, Jonathan N. Berg, Birgitta Bernhard, A. Paul Bevan, Maria A. K. Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David W. Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie L.E. Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre D. Cilliers, Angus John Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia E. Clowes, Andrea Coates, Trevor R. P. Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola S. Cooper, Helen Cox, Lara Cresswell, Gareth S. Cross, Yanick Joseph Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally J Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian Ogilvie Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances A. Flinter, Nicola C. Foulds, Andrew E. Fry, Alan E Fryer, Carol A. Gardiner, Lorraine Gaunt, Neeti Ghali, Richard J. Gibbons, Harinder Singh Gill, Judith Goodship, David R. Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan M. Gribble, Rachel E. Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen W. Hellens, Alex Henderson, Sarah K. Hewitt, Lucy Hildyard, Emma Hobson, Simon T. Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn W. Humphreys, Jane L. Hurst, Ben Hutton, Stuart Ingram, Melita D. Irving, Lily Islam, Andrew P. Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana J. Josifova, Shelagh K. Joss, Beckie Kaemba, Sandra Kazembe, Rosemary E. Kelsell, Bronwyn A. Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail A. Kirby, Claire W. Kirk, Emma C. Kivuva, Alison Kraus, Dhavendra Kumar, Vipul Kumar, Katherine L. Lachlan, Wayne K. Lam, Anne Lampe, Caroline Langman, Melissa M. Lees, Derek Lim, Cheryl Longman, Gordon W. Lowther, Sally Ann Lynch, Alex C. Magee, E.R. Maher, Alison M. Male, Sahar Mansour, Karen J. Marks, Katherine E. Martin, Una Maye, Emma McCann, Vivienne P. M. McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane A McKee, Dominic J. McMullan, Susan McNerlan, Catherine A. McWilliam, Sarju G. Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma K. Miles, Shehla N. Mohammed, Tara Montgomery, David Moore, Siân Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Hilary Nemeth, Louise Nevitt, Andrew Norman, Rosie O’Shea, Caroline Mackie Ogilvie, Kai‐Ren Ong, Soo-Mi Park, Michael James Parker, Chirag Patel, Joan Paterson, Stewart J. Payne, Daniel Perrett, Julie M. Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver W J Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan S. Roberts, Paul Roberts, Gillian Roberts, Alison J. Ross, Elisabeth M. Rosser, Anand Saggar, Shalaka Samant, Julian R. Sampson, Richard Sandford, Ajoy Krishna Sarkar, Susann Schweiger, Richard Scott, Ingrid J. Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora L. Shannon, Saba Sharif, Charles J Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn G. Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda P. Splitt, Miranda Squires, Fiona J. Stewart, Helen S. Stewart, Volker W. Straub, Mohnish Suri, V. Reid Sutton, Ganesh Jawahar Swaminathan, Elizabeth A. Sweeney, Kate Tatton‐Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc D. Tischkowitz, Susan E. Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter D. Turnpenny, Carolyn J. Tysoe, Anthony Vandersteen, Vinod Cherian Varghese, Pradeep C. Vasudevan, Parthiban Vijayarangakannan, Julie A. Vogt, Emma L. Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Gay Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola C. Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael J. Wright, Laura M. Yates, Michael Yau, Chris Nellåker, Helen V. Firth, Caroline Fiona Wright, David R FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan H. Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Derizioti, Laurence Olivier Faivre, Julien Thévenon, Mirna Assoum, Lawrence D. Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau

125Citations signalées, ce qui n’est pas une note de qualité

110Institutions déclarées

10Pays d’affiliation déclarés

Rattachement africain : nl, ca, us, gb, fr, kr, de, at, ie, jp. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.

Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Date Crossref: 05/11/2018
Éditeur: Springer Science and Business Media LLC
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Où se fait cette recherche

Radboud University Nijmegen Donders Institute for Brain pays non établi dans la notice
Université ou école supérieure
Radboud University Medical Center Department of Human Genetics pays non établi dans la notice
Organisme public
Max Planck Institute for Psycholinguistics Language and Genetics Department pays non établi dans la notice
Structure de recherche
Donders Institute for Brain pays non établi dans la notice
Structure de recherche
Centre Hospitalier Universitaire Sainte-Justine pays non établi dans la notice
Établissement de santé
CHU Sainte-Justine Research Center pays non établi dans la notice
Structure de recherche
Triangle pays non établi dans la notice
Organisation à but non lucratif
National Institute of Environmental Health Sciences pays non établi dans la notice
Structure de recherche
Radboud Institute for Molecular Life Sciences pays non établi dans la notice
Structure de recherche
Boston Children's Hospital Division of Genetics and Genomics pays non établi dans la notice
Établissement de santé
Harvard University pays non établi dans la notice
Université ou école supérieure
Massachusetts General Hospital Department of Neurology pays non établi dans la notice
Établissement de santé

Donders Institute for Brain — Radboud University Nijmegen, Department of Human Genetics — Radboud University Medical Center et Language and Genetics Department — Max Planck Institute for Psycholinguistics, avec 9 autres affiliations.

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Chromatin Remodeling and CancerGenetics and Neurodevelopmental DisordersGenomics and Chromatin Dynamics

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