De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Alka Malhotra # 1 , Alban Ziegler # 2 , Li Shu # 3 , Renee Perrier 4 , Louise Amlie-Wolf 5 , Elizabeth Wohler 6 , Nara Lygia de Macena Sobreira 6 , Estelle Colin 2 , Adeline Vanderver 7 8 , Omar Sherbini 7 , Katrien Stouffs 9 , Emmanuel Scalais 10 , Alessandro Serretti 11 , Magalie Barth 2 , Benjamin Navet 2 , Paul Rollier 2 , Hui Xi 3 , Hua Wang 3 , Hainan Zhang 12 , Denise L Perry 13 , Alessandra Ferrarini 14 , Roberto Colombo 15 , Alexander Pepler 16 17 , Adele Schneider 18 , Kiyotaka Tomiwa 19 , Nobuhiko Okamoto 20 , Naomichi Matsumoto 21 , Noriko Miyake 21 , Ryan Taft # 13 , Xiao Mao # 3 , Dominique Bonneau # 2

# Contributed equally.


  1. Illumina Inc, San Diego, California, USA amalhotra@illumina.com.
  2. Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
  3. Maternal and Child Health Hospital of Hunan Province, Changsha, China.
  4. Department of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.
  5. Nemours A.I. Dupont Hospital for Children, Wilmington, Delaware, USA.
  6. McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  7. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  8. Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  9. Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
  10. Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
  11. Department of Biomedical and NeuroMotor Sciences, Bologna University, Bologna, Italy.
  12. Department of Neurology, The Second Xiangya Hospital, Central South University, Hunan, China.
  13. Illumina Inc, San Diego, California, USA.
  14. Italian Hospital of Lugano and University of Lugano, Lugano, Switzerland.
  15. Center for the Study of Rare Hereditary Diseases, Catholic University and Policlinico Agostino Gemelli University Hospital, Milan, Italy.
  16. Praxis für Humangenetik, Tuebingen, Germany.
  17. CeGaT GmbH, Tubingen, Baden-Württemberg, Germany.
  18. Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
  19. Todaiji Ryoiku Hospital for Children, Kyoto, Japan.
  20. Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi, Japan.
  21. Department of Human Genetics, Yokohama City University, Yokohama, Kanagawa, Japan.