Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings

Brain Dev. 2017 Jan;39(1):62-66. doi: 10.1016/j.braindev.2016.08.003. Epub 2016 Aug 25.

Abstract

Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions.

Keywords: ACTA2 gene; Cerebrovascular disorders; Germline mosaicism; Magnetic resonance imaging; Newborn.

Publication types

  • Case Reports

MeSH terms

  • Actins / genetics*
  • Brain / diagnostic imaging*
  • Cerebral Angiography
  • Cerebrovascular Disorders / complications
  • Cerebrovascular Disorders / diagnostic imaging*
  • Cerebrovascular Disorders / genetics*
  • Cerebrovascular Disorders / therapy
  • Cross Infection / complications
  • Fatal Outcome
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Siblings

Substances

  • ACTA2 protein, human
  • Actins