Nature Communications (Nov 2018)

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 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

DOI
https://doi.org/10.1038/s41467-018-06014-6
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 12

Abstract

Read online

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.