Nature Communications (Aug 2019)
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome
- Abigail U. Carbonell,
- Chang Hoon Cho,
- Jaafar O. Tindi,
- Pamela A. Counts,
- Juliana C. Bates,
- Hediye Erdjument-Bromage,
- Svetlana Cvejic,
- Alana Iaboni,
- Ifat Kvint,
- Jenny Rosensaft,
- Ehud Banne,
- Evdokia Anagnostou,
- Thomas A. Neubert,
- Stephen W. Scherer,
- Sophie Molholm,
- Bryen A. Jordan
Affiliations
- Abigail U. Carbonell
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- Chang Hoon Cho
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- Jaafar O. Tindi
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- Pamela A. Counts
- Department of Pediatrics, Albert Einstein College of Medicine
- Juliana C. Bates
- Department of Pediatrics, Albert Einstein College of Medicine
- Hediye Erdjument-Bromage
- Department of Cell Biology and Kimmel Center for Biology and Medicine of the Skirball Institute, New York University School of Medicine
- Svetlana Cvejic
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- Alana Iaboni
- Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital
- Ifat Kvint
- Pediatric Neurology Clinic, Kaplan Medical Center, Hebrew University Hadassah Medical School
- Jenny Rosensaft
- Genetics Institute, Kaplan Medical Center, Hebrew University Hadassah Medical School
- Ehud Banne
- Genetics Institute, Kaplan Medical Center, Hebrew University Hadassah Medical School
- Evdokia Anagnostou
- Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital
- Thomas A. Neubert
- Department of Cell Biology and Kimmel Center for Biology and Medicine of the Skirball Institute, New York University School of Medicine
- Stephen W. Scherer
- Centre for Applied Genomics and McLaughlin Centre, Hospital for Sick Children and University of Toronto
- Sophie Molholm
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- Bryen A. Jordan
- Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine
- DOI
- https://doi.org/10.1038/s41467-019-11437-w
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 15
Abstract
Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndrome
