A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood

Eur J Med Genet. 2020 Sep;63(9):104002. doi: 10.1016/j.ejmg.2020.104002. Epub 2020 Jul 8.

Abstract

Sudden Unexplained Death in Childhood (SUDC), the death of a child that remains unexplained after a complete autopsy and investigation, is a rare and poorly understood entity. This case report describes a 3-year-old boy with history of language delay and ptosis, who died suddenly in his sleep without known cause. A pathogenic de novo frameshift mutation in BRPF1, a gene which has been associated with the syndrome of Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), was identified during a post-mortem evaluation. The finding of a pathogenic variant in BRPF1, which has not previously been associated with sudden death, in an SUDC case has implications for this child's family and contributes to the broader field of SUDC research. This case demonstrates the utility of post-mortem genetic testing in SUDC.

Keywords: BRPF1; SUDC; Sudden death; Sudden unexplained death in childhood; Undetermined death.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Autopsy
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Death, Sudden*
  • Facies
  • Frameshift Mutation*
  • Genetic Testing
  • Humans
  • Language Development Disorders / genetics*
  • Language Development Disorders / pathology
  • Male

Substances

  • Adaptor Proteins, Signal Transducing
  • BRPF1 protein, human
  • DNA-Binding Proteins