GATAD2B-associated neurodevelopmental disorder (GAND) : clinical and molecular insights into a NuRD-related disorder

• Published in: Genetics in medicine Vol. 22; no. 5; pp. 878 - 888
• Main Authors: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P G, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D M, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E V, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
• Format: Journal Article
• Language: English
• Published: New York Springer Nature 01.05.2020; Nature Publishing Group US
• Subjects: Apraxia of speech; Biomedical and Life Sciences; Biomedicine; Child; Chromatin remodeling; Female; GATA Transcription Factors - genetics; GATAD2B; Human Genetics; Humans; Intellectual Disability - genetics; Laboratory Medicine; Macrocephaly; Megalencephaly; Neurodevelopmental Disorders - genetics; Nucleosomes; NuRD complex; Phenotype; Pregnancy; Repressor Proteins; GATAD2B; NuRD complex; apraxia of speech; chromatin remodeling; macrocephaly

Copyright © 2020, American College of Medical Genetics and Genomics Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND). Methods: Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation...