Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability

• Published in: Human mutation Vol. 38; no. 10; pp. 1365 - 1371
• Main Authors: Marom, Ronit, Jain, Mahim, Burrage, Lindsay C., Song, I‐Wen, Graham, Brett H., Brown, Chester W., Stevens, Servi J.C., Stegmann, Alexander P.A., Gunter, Andrew T., Kaplan, Julie D., Gavrilova, Ralitza H., Shinawi, Marwan, Rosenfeld, Jill A., Bae, Yangjin, Tran, Alyssa A., Chen, Yuqing, Lu, James T., Gibbs, Richard A., Eng, Christine, Yang, Yaping, Rousseau, Justine, Vries, Bert B.A., Campeau, Philippe M., Lee, Brendan
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.10.2017
• Subjects: Actin; Actins - genetics; ACTL6A; Adolescent; Amino acids; BAF complex; BRG1 protein; Child; Chromatin Assembly and Disassembly - genetics; Chromatin remodeling; Chromosomal Proteins, Non-Histone - genetics; DNA Helicases - genetics; DNA-Binding Proteins - genetics; Exome; Face; Female; Gene deletion; Hand Deformities, Congenital - genetics; Hand Deformities, Congenital - physiopathology; Heterozygote; Humans; Intellectual disabilities; intellectual disability; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Language disorders; Male; Micrognathism - genetics; Micrognathism - physiopathology; Missense mutation; Multiprotein Complexes - genetics; Mutation; Mutation, Missense - genetics; Nuclear Proteins - genetics; Point mutation; Protein Binding; speech delay; Splicing; Transcription Factors - genetics; BAF complex; speech delay; intellectual disability; ACTL6A
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1002/humu.23282

Pathogenic variants in genes encoding components of the BRG1‐associated factor (BAF) chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with...