Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• DOI: 10.1126/sciadv.abc9207
• Publication Date: 2020-12-03T01:50:18Z
• Authors: Laura Bryant; Dong Li; Samuel G. Cox; Dylan Marchione; Evan F. Joiner; Khadija Wilson; Kevin Janssen; Pearl Lee; Michael E. March; Divya Nair; Elliott Sherr; Brieana Fregeau; Klaas J. Wierenga; Alexandrea Wadley; Grazia M. S. Mancini; Nina Powell-Hamilton; Jiddeke van de Kamp; Theresa Grebe; John Dean; Alison Ross; Heather P. Crawford; Zoe Powis; Megan T. Cho; Marcia C. Willing; Linda Manwaring; Rachel Schot; Caroline Nava; Alexandra Afenjar; Davor Lessel; Matias Wagner; Thomas Klopstock; Juliane Winkelmann; Claudia B. Catarino; Kyle Retterer; Jane L. Schuette; Jeffrey W. Innis; Amy Pizzino; Sabine Lüttgen; Jonas Denecke; Tim M. Strom; Kristin G. Monaghan; ; Zuo-Fei Yuan; Holly Dubbs; Renee Bend; Jennifer A. Lee; Michael J. Lyons; Julia Hoefele; Roman Günthner; Heiko Reutter; Boris Keren; Kelly Radtke; Omar Sherbini; Cameron Mrokse; Katherine L. Helbig; Sylvie Odent; Benjamin Cogne; Sandra Mercier; Stephane Bezieau; Thomas Besnard; Sebastien Kury; Richard Redon; Karit Reinson; Monica H. Wojcik; Katrin Õunap; Pilvi Ilves; A. Micheil Innes; Kristin D. Kernohan; ; Gregory Costain; M. Stephen Meyn; David Chitayat; Elaine Zackai; Anna Lehman; Hilary Kitson; ; Martin G. Martin; Julian A. Martine...; ; Stan F. Nelson; Christina G. S. P...; Jeanette C. Papp; Neil H. Parker; Janet S. Sinsheimer; Eric Vilain; Jijun Wan; Amanda J. Yoon; Allison Zheng; Elise Brimble; Giovanni Battista...; Francesca Clement...; Diana Carli; Sabina Barresi; Alfredo Brusco; Marco Tartaglia; Jennifer Muncy Th...; Luis Umana; Marjan M. Weiss; Garrett Gotway; K. E. Stuurman; Michelle L. Thompson; Kirsty McWalter; Constance T. R. M...; Servi J. C. Stevens; Alexander P. A. S...; Kristian Tveten; Arve Vøllo; Trine Prescott; Christina Fagerberg; Lone Walentin Lau...; Martin J. Larsen; Melissa Byler; Robert Roger Lebel; Anna C. Hurst; Joy Dean; Samantha A. Schri...; Jennifer Norman; Saadet Mercimek-A...; Juanita Neira; Margot I. Van Allen; Nicola Longo; Elizabeth Sellars; Raymond J. Louie; Sara S. Cathey; Elly Brokamp; Delphine Heron; Molly Snyder; Adeline Vanderver; Celeste Simon; Xavier de la Cruz; Natália Padilla; J. Gage Crump; Wendy Chung; Benjamin Garcia; Hakon H. Hakonarson; Elizabeth J. Bhoj
• Keywords: metabolism [Zebrafish Proteins]; 570; Pediatric Research Initiative; RESIDUE; Care4Rare Canada Consortium; metabolism [Histones]; GENES; EMC OR-01; CODE; 610; VARIANTS; Histones; 03 medical and health sciences; CAUSES Study; Rare Diseases; SDG 3 - Good Health and Well-being; histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation; Genetics; 2.1 Biological and endogenous factors; H3-3A protein, human; Animals; Humans; metabolism [Zebrafish]; TRANSCRIPTION; Aetiology; PHOSPHORYLATION; Research Articles; Germ-Line Mutation; Zebrafish; DDD Study; Cancer; genetics [Zebrafish]; 0303 health sciences; foxd3 protein, zebrafish; Human Genome; Forkhead Transcription Factors; Neurodegenerative Diseases; Undiagnosed Diseases Network; Zebrafish Proteins; genetics [Histones]; 3. Good health; genetics [Forkhead Transcription Factors]; genetics [Neurodegenerative Diseases]; ddc:500; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology; Biotechnology

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.