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Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic

Annie T G Chiu1,2, Mark F Bennett1,3,4, Harshini Thiyagarajah1

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Pathogenic variants in RNU2-2, a small nuclear RNA (snRNA), cause a severe form of developmental and epileptic encephalopathy (DEE). This discovery highlights snRNAs as a significant genetic cause of these rare neurological disorders.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Small nuclear RNAs (snRNAs) are crucial for gene expression, but their role in neurological disorders is increasingly recognized.
  • Developmental and Epileptic Encephalopathies (DEEs) represent a group of severe early-onset epilepsy syndromes with significant genetic heterogeneity.
  • Identifying novel genetic causes for DEEs is essential for diagnosis and therapeutic development.

Purpose of the Study:

  • To investigate the role of RNU2-2 variants in patients with unexplained DEEs.
  • To characterize the clinical and neurophysiological phenotype associated with RNU2-2 pathogenic variants.
  • To establish RNU2-2 variants as a distinct genetic cause of DEE.

Main Methods:

  • Whole-exome sequencing or targeted gene panels were used to identify genetic variants in patients with DEEs.
  • Clinical data, including seizure types, developmental status, and neuroimaging findings, were collected and analyzed.
  • Electroencephalography (EEG) and magnetic resonance imaging (MRI) were performed to assess neurological function and brain structure.

Main Results:

  • Recurrent pathogenic variants in RNU2-2 were identified in 0.6% of patients with unexplained DEEs.
  • Patients with RNU2-2 DEE presented with early-onset seizures (median 24 months), status epilepticus, severe developmental impairment, hyperventilation, and obstructive sleep apnea.
  • EEG revealed sleep-activated multifocal epileptiform discharges, and MRI showed hippocampal sclerosis in affected individuals.

Conclusions:

  • Pathogenic variants in RNU2-2 represent a novel and distinct genetic cause of severe DEE.
  • This finding expands the spectrum of genetic disorders associated with snRNA dysfunction.
  • RNU2-2 should be considered in the genetic workup of patients with unexplained DEEs, particularly those with the described phenotype.