Severe gastrointestinal symptoms caused by a novel DDX3X variant

Eur J Med Genet. 2020 Dec;63(12):104058. doi: 10.1016/j.ejmg.2020.104058. Epub 2020 Sep 5.

Abstract

Mutations in DDX3X have recently been identified as a common cause of intellectual disability and congenital anomalies. DDX3X (Xp11.4) encodes the DEAD box RNA helicase that plays an important role in gene regulation, apoptosis, and oncogenesis. Here, we report a case of 6-year-old Japanese girl with a novel variant (NM_001193416.3: c.1574A > G; p.(Tyr525Cys), who exhibited psychomotor retardation, severe constipation, and a recurrent paralytic ileus. This is the second report of severe gastrointestinal symptoms being associated with this disease. This report expands the phenotype caused by DDX3X variants and reveals an important clinical aspect for patients and medical staff.

Keywords: Constipation; DDX3X; DEAD box RNA helicase; Paralytic ileus; Psychomotor retardation.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Constipation / genetics*
  • Constipation / pathology
  • DEAD-box RNA Helicases / genetics*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Female
  • Humans
  • Intestinal Pseudo-Obstruction / genetics*
  • Intestinal Pseudo-Obstruction / pathology
  • Mutation

Substances

  • DDX3X protein, human
  • DEAD-box RNA Helicases