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

Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J. C. Stevens, Alexander P. A. Stegmann, Andrew T. Gunter, Julie D. Kaplan, Ralitza H. Gavrilova, Marwan Shinawi, Jill A. Rosenfeld, Yangjin Bae, Alyssa A. Tran, Yuqing Chen, James T. Lu, Richard A. Gibbs, Christine Eng, Yaping YangJustine Rousseau, Bert B. A. de Vries, Philippe M. Campeau, Brendan Lee

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1365-1371
Number of pages7
JournalHuman Mutation
Volume38
Issue number10
DOIs
Publication statusPublished - Oct 2017

Keywords

  • ACTL6A
  • BAF complex
  • intellectual disability
  • speech delay
  • ACTIN-RELATED PROTEINS
  • COFFIN-SIRIS SYNDROME
  • CHROMATIN-REMODELING COMPLEX
  • BARAITSER-WINTER SYNDROME
  • DE-NOVO MUTATIONS
  • MENTAL-RETARDATION
  • NUCLEAR ACTIN
  • HAPLOINSUFFICIENCY CAUSES
  • SWI/SNF COMPLEX
  • GENE

Cite this

Marom, R., Jain, M., Burrage, L. C., Song, I-W., Graham, B. H., Brown, C. W., Stevens, S. J. C., Stegmann, A. P. A., Gunter, A. T., Kaplan, J. D., Gavrilova, R. H., Shinawi, M., Rosenfeld, J. A., Bae, Y., Tran, A. A., Chen, Y., Lu, J. T., Gibbs, R. A., Eng, C., ... Lee, B. (2017). Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation, 38(10), 1365-1371. https://doi.org/10.1002/humu.23282