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

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. / Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H; Monroe, Glen R; van Gassen, Koen L I; van Binsbergen, Ellen; Newbury-Ecob, Ruth; Bownass, Lucy; Bader, Ingrid; Mayr, Johannes A; Wortmann, Saskia B; Jakielski, Kathy J; Strand, Edythe A; Kloth, Katja; Bierhals, Tatjana; DDD Study; Roberts, John D; Petrovich, Robert M; Machida, Shinichi; Kurumizaka, Hitoshi; Lelieveld, Stefan; Pfundt, Rolph; Jansen, Sandra; Deriziotis, Pelagia; Faive, Laurence; Thevenon, Julien; Assoum, Mirna; Shriberg, Lawrence; Kleefstra, Tjitske; Brunner, Han G; Wade, Paul A; Fisher, Simon E; Campeau, Philippe M.

in: NAT COMMUN, Jahrgang 9, Nr. 1, 05.11.2018, S. 4619.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, MA, Sahai, I, Stumpel, CTRM, Stegmann, APA, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, WT, Cohen, ASA, Agbahovbe, R, Innes, AM, Au, PYB, Rankin, J, Anderson, IJ, Skinner, SA, Louie, RJ, Warren, HE, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, JH, Price, S, Schnur, RE, Douglas, G, Wentzensen, IM, Zweier, C, Reis, A, Bialer, MG, Moore, C, Koopmans, M, Brilstra, EH, Monroe, GR, van Gassen, KLI, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, JA, Wortmann, SB, Jakielski, KJ, Strand, EA, Kloth, K, Bierhals, T, DDD Study, Roberts, JD, Petrovich, RM, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, HG, Wade, PA, Fisher, SE & Campeau, PM 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', NAT COMMUN, Jg. 9, Nr. 1, S. 4619. https://doi.org/10.1038/s41467-018-06014-6

APA

Snijders Blok, L., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., ... Campeau, P. M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. NAT COMMUN, 9(1), 4619. https://doi.org/10.1038/s41467-018-06014-6

Vancouver

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. NAT COMMUN. 2018 Nov 5;9(1):4619. https://doi.org/10.1038/s41467-018-06014-6

Bibtex

@article{b33f546afe9e40199b277a27b52e6fbd,
title = "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language",
abstract = "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.",
keywords = "Journal Article, Research Support, Non-U.S. Gov't",
author = "{Snijders Blok}, Lot and Justine Rousseau and Joanna Twist and Sophie Ehresmann and Motoki Takaku and Hanka Venselaar and Rodan, {Lance H} and Nowak, {Catherine B} and Jessica Douglas and Swoboda, {Kathryn J} and Steeves, {Marcie A} and Inderneel Sahai and Stumpel, {Connie T R M} and Stegmann, {Alexander P A} and Patricia Wheeler and Marcia Willing and Elise Fiala and Aaina Kochhar and Gibson, {William T} and Cohen, {Ana S A} and Ruky Agbahovbe and Innes, {A Micheil} and Au, {P Y Billie} and Julia Rankin and Anderson, {Ilse J} and Skinner, {Steven A} and Louie, {Raymond J} and Warren, {Hannah E} and Alexandra Afenjar and Boris Keren and Caroline Nava and Julien Buratti and Arnaud Isapof and Diana Rodriguez and Raymond Lewandowski and Jennifer Propst and {van Essen}, Ton and Murim Choi and Sangmoon Lee and Chae, {Jong H} and Susan Price and Schnur, {Rhonda E} and Ganka Douglas and Wentzensen, {Ingrid M} and Christiane Zweier and Andr{\'e} Reis and Bialer, {Martin G} and Christine Moore and Marije Koopmans and Brilstra, {Eva H} and Monroe, {Glen R} and {van Gassen}, {Koen L I} and {van Binsbergen}, Ellen and Ruth Newbury-Ecob and Lucy Bownass and Ingrid Bader and Mayr, {Johannes A} and Wortmann, {Saskia B} and Jakielski, {Kathy J} and Strand, {Edythe A} and Katja Kloth and Tatjana Bierhals and {DDD Study} and Roberts, {John D} and Petrovich, {Robert M} and Shinichi Machida and Hitoshi Kurumizaka and Stefan Lelieveld and Rolph Pfundt and Sandra Jansen and Pelagia Deriziotis and Laurence Faive and Julien Thevenon and Mirna Assoum and Lawrence Shriberg and Tjitske Kleefstra and Brunner, {Han G} and Wade, {Paul A} and Fisher, {Simon E} and Campeau, {Philippe M}",
year = "2018",
month = nov,
day = "5",
doi = "10.1038/s41467-018-06014-6",
language = "English",
volume = "9",
pages = "4619",
journal = "NAT COMMUN",
issn = "2041-1723",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

AU - Snijders Blok, Lot

AU - Rousseau, Justine

AU - Twist, Joanna

AU - Ehresmann, Sophie

AU - Takaku, Motoki

AU - Venselaar, Hanka

AU - Rodan, Lance H

AU - Nowak, Catherine B

AU - Douglas, Jessica

AU - Swoboda, Kathryn J

AU - Steeves, Marcie A

AU - Sahai, Inderneel

AU - Stumpel, Connie T R M

AU - Stegmann, Alexander P A

AU - Wheeler, Patricia

AU - Willing, Marcia

AU - Fiala, Elise

AU - Kochhar, Aaina

AU - Gibson, William T

AU - Cohen, Ana S A

AU - Agbahovbe, Ruky

AU - Innes, A Micheil

AU - Au, P Y Billie

AU - Rankin, Julia

AU - Anderson, Ilse J

AU - Skinner, Steven A

AU - Louie, Raymond J

AU - Warren, Hannah E

AU - Afenjar, Alexandra

AU - Keren, Boris

AU - Nava, Caroline

AU - Buratti, Julien

AU - Isapof, Arnaud

AU - Rodriguez, Diana

AU - Lewandowski, Raymond

AU - Propst, Jennifer

AU - van Essen, Ton

AU - Choi, Murim

AU - Lee, Sangmoon

AU - Chae, Jong H

AU - Price, Susan

AU - Schnur, Rhonda E

AU - Douglas, Ganka

AU - Wentzensen, Ingrid M

AU - Zweier, Christiane

AU - Reis, André

AU - Bialer, Martin G

AU - Moore, Christine

AU - Koopmans, Marije

AU - Brilstra, Eva H

AU - Monroe, Glen R

AU - van Gassen, Koen L I

AU - van Binsbergen, Ellen

AU - Newbury-Ecob, Ruth

AU - Bownass, Lucy

AU - Bader, Ingrid

AU - Mayr, Johannes A

AU - Wortmann, Saskia B

AU - Jakielski, Kathy J

AU - Strand, Edythe A

AU - Kloth, Katja

AU - Bierhals, Tatjana

AU - DDD Study

AU - Roberts, John D

AU - Petrovich, Robert M

AU - Machida, Shinichi

AU - Kurumizaka, Hitoshi

AU - Lelieveld, Stefan

AU - Pfundt, Rolph

AU - Jansen, Sandra

AU - Deriziotis, Pelagia

AU - Faive, Laurence

AU - Thevenon, Julien

AU - Assoum, Mirna

AU - Shriberg, Lawrence

AU - Kleefstra, Tjitske

AU - Brunner, Han G

AU - Wade, Paul A

AU - Fisher, Simon E

AU - Campeau, Philippe M

PY - 2018/11/5

Y1 - 2018/11/5

N2 - 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.

AB - 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.

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1038/s41467-018-06014-6

DO - 10.1038/s41467-018-06014-6

M3 - SCORING: Journal article

C2 - 30397230

VL - 9

SP - 4619

JO - NAT COMMUN

JF - NAT COMMUN

SN - 2041-1723

IS - 1

ER -