O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

• Cherith Somerville,
• Ersa Erkut,
• Marci Schwartz,
• Xin Chen,
• Roozbeh Manshaei,
• Qiliang Ding,
• Karin Diderich,
• Lisa Herzig,
• Bri Dingmann,
• Chloe Quelin,
• Véronique Pingault,
• Christèle Dubourg,
• Joana Rosmaninho Salgado,
• Sérgio Sousa,
• Daniel Koboldt,
• Rachel Gosselin,
• Kim McBride,
• Maria Arvio,
• Irma Järvelä,
• Isabelle Schrauwen,
• Laura Conlin,
• Cara Skraban,
• Sara Reichert,
• Jacqueline Leonard,
• Emma Bedoukian,
• Raymond Kim,
• Ian Scott,
• Rebekah Jobling

Affiliations

Cherith Somerville

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada

Ersa Erkut

Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

Marci Schwartz

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada

Xin Chen

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada

Roozbeh Manshaei

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada

Qiliang Ding

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada

Karin Diderich

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

Lisa Herzig

Seattle Children's Hospital, University of Washington, Seattle, WA

Bri Dingmann

Seattle Children's Hospital, University of Washington, Seattle, WA

Chloe Quelin

Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France

Véronique Pingault

Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker, Paris, France

Christèle Dubourg

Service de Génétique Moléculaire et Génomique, CHU Pontchaillou, Rennes, France

Joana Rosmaninho Salgado

Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Sérgio Sousa

Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Daniel Koboldt

The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, The Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH

Rachel Gosselin

Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH

Kim McBride

The Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, Division of Genetic and Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, Center for Cardiovascular Research at Nationwide Children's Hospital, Columbus, OH, The Department of Medical Genetics, Cumming School of Medicine University of Calgary, Alberta, Canada

Maria Arvio

Päijät-Häme Joint Municipal Authority, Neurology, Lahti, Finland; PEDEGO, Oulu University Hospital, Finland, Department of General Practise, Turku University and Turku University Central Hospital, Finland

Irma Järvelä

The Department of Medical Genetics, University of Helsinki, Helsinki, Finland

Isabelle Schrauwen

Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY

Laura Conlin

Children’s Hospital of Philadelphia, Philadelphia, PA

Cara Skraban

Children’s Hospital of Philadelphia, Philadelphia, PA

Sara Reichert

Children’s Hospital of Philadelphia, Philadelphia, PA

Jacqueline Leonard

Children’s Hospital of Philadelphia, Philadelphia, PA

Emma Bedoukian

Children’s Hospital of Philadelphia, Philadelphia, PA

Raymond Kim

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Department of Medicine, University of Toronto, Toronto, Ontario, Canada

Ian Scott

Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada

Rebekah Jobling

Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada