De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.

Abstract

Brain malformations are individually rare but collectively common causes of developmental disabilities. Many forms of malformation occur sporadically and are associated with reduced reproductive fitness, pointing to a causative role for de novo mutations. Here, we report a study of Baraitser-Winter syndrome, a well-defined disorder characterized by distinct craniofacial features, ocular colobomata and neuronal migration defect. Using whole-exome sequencing of three proband-parent trios, we identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively. Sequencing of both genes in 15 additional affected individuals identified disease-causing mutations in all probands, including two recurrent de novo alterations (ACTB, encoding p.Arg196His, and ACTG1, encoding p.Ser155Phe). Our results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Actins / genetics*
  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Brain / abnormalities*
  • Child
  • Coloboma / genetics
  • DNA Copy Number Variations
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Nervous System Malformations / genetics
  • PAX9 Transcription Factor / genetics
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Deletion
  • Syndrome

Substances

  • Actins
  • PAX9 Transcription Factor
  • PAX9 protein, human