作者
Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana PG Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingrid P Taff, Mauricio R Delgado, MJ Hajianpour, Andrea Seeley, Luis Rohena, Hilary Vernon, Karen W Gripp, Samantha A Vergano, Sonal Mahida, Sakkubai Naidu, Ana Berta Sousa, Karen E Wain, Thomas D Challman, Geoffrey Beek, Donald Basel, Judith Ranells, Rosemarie Smith, Roman Yusupov, Mary-Louise Freckmann, Lisa Ohden, Laura Davis-Keppen, David Chitayat, James J Dowling, Richard Finkel, Andrew Dauber, Rebecca Spillmann, Loren DM Pena, Kay Metcalfe, Miranda Splitt, Katherine Lachlan, Shane A McKee, Jane Hurst, David R Fitzpatrick, Jenny EV Morton, Helen Cox, Sunita Venkateswaran, Juan I Young, Eric D Marsh, Stanley F Nelson, Julian A Martinez, John M Graham, Usha Kini, Joel P Mackay, Tyler Mark Pierson
发表日期
2020/1/17
期刊
Genetics in Medicine
页码范围
1-11
出版商
Nature Publishing Group
简介
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 assays utilizing in vitro transcription–translation products were used to evaluate GATAD2B missense variants’ ability to interact with binding partners within the nucleosome remodeling and deacetylase (NuRD) complex.
Results
Subjects had clinical findings that included macrocephaly, hypotonia, intellectual disability, neonatal feeding issues, polyhydramnios, apraxia of speech, epilepsy, and bicuspid aortic valves. Forty-one novelGATAD2B variants were identified with multiple variant types (nonsense, truncating frameshift, splice-site variants, deletions, and missense). Seven subjects were identified with missense variants that localized within two conserved region domains …
学术搜索中的文章
C Shieh, N Jones, B Vanle, M Au, AY Huang… - Genetics in Medicine, 2020