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

ABSTRACT: 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 varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to β-actin and BRG1. A third subject has a splicing variant that creates an in-frame deletion. Our findings suggest that the variants identified in our subjects may have a del

SUBMITTER: Marom R 

PROVIDER: S-EPMC5599325 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature