Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.

Abstract

De novo DDX3X variants account for 1-3% of syndromic intellectual disability (ID) in females and have been occasionally reported in males. Furthermore, somatic DDX3X variants occur in several aggressive cancers, including medulloblastoma. We report three unrelated females with severe ID, dysmorphic features, and a common brain malformative pattern characterized by malformations of cortical development, callosal dysgenesis, basal ganglia anomalies, and midbrain-hindbrain malformations. A pilocytic astrocytoma was incidentally diagnosed in Patient 1 and trigonocephaly was found in Patient 2. With the use of family based whole exome sequencing (WES), we identified three distinct de novo variants in DDX3X. These findings expand the phenotypic spectrum of DDX3X-related disorders, demonstrating unique neuroradiological features resembling those of the tubulinopathies, and support a role for DDX3X in neuronal development. Our observations further suggest a possible link between germline DDX3X variants and cancer development.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / genetics*
  • Child
  • Child, Preschool
  • DEAD-box RNA Helicases / genetics*
  • Exome Sequencing
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mutation, Missense
  • Nervous System Malformations / genetics*

Substances

  • DDX3X protein, human
  • DEAD-box RNA Helicases