Understanding the association between EBF3-related syndrome and cerebellar malformation in children

  • The EBF3 gene encodes an evolutionarily conserved protein – a transcription factor – that regulates neurodevelopment, and a deletion or mutation in the gene results in disability or compromised development in people.
  • This study explored the genetic basis of EBF3-related syndrome and neurodevelopmental outcomes in children (n=4 with EBF3 gene mutations; n=2 with 10q26 deletion; aged 2–12 years). A delay in developmental processes resulted in variable cognitive impairment across the cohort. All children exhibited ataxia, with varying degrees of severity, because of hypotonia. Brain scans indicated cerebellar malformation and unremarkable neurophysiologic examinations in all children.  
  • According to the authors, cerebellar malformation plays a role in EBF3-related syndrome, and should be treated as treated as a congenital, nonprogressive ataxia.