The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

Clin Genet. 2020 Apr;97(4):672-674. doi: 10.1111/cge.13682. Epub 2020 Jan 29.


We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1-associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, only three patients with ACTL6A variants and neurodevelopmental delay have been reported but the specific p.Arg377Trp mutation seems to correlate with a distinctive phenotype well-fitting a BAFopathy, which lacks in individuals carrying different mutations. This could suggest an emergent genotype-phenotype correlation among the ACTL6A-related phenotype.

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Actins / genetics*
  • Child
  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Humans
  • Male
  • Micrognathism / pathology
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology


  • ACTL6A protein, human
  • Actins
  • BANF1 protein, human
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins