ELP2 is a novel gene implicated in neurodevelopmental disabilities

Am J Med Genet A. 2015 Jun;167(6):1391-5. doi: 10.1002/ajmg.a.36935. Epub 2015 Apr 2.


Elongator is a multi-subunit protein complex essential to transcription elongation, histone acetylation, and tRNA modification. The complex consists of six highly conserved protein subunits, called Elongator Proteins (ELP) 1-6. Apart from an association with intellectual disability (ID), there is limited clinical information about patients with ELP2 variants. Here we report on two brothers with severe ID, spastic diplegia, and self-injury whose presentation eluded a diagnosis for over 20 years. In both brothers, whole exome sequencing revealed a likely pathogenic, compound heterozygous missense variant in ELP2. We describe the phenotype and natural history of the ELP2-related disorder in these brothers.

Keywords: ELP2; Elongator complex; intellectual disability; self-injury; spastic diplegia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cerebral Palsy / diagnosis
  • Cerebral Palsy / genetics*
  • Cerebral Palsy / pathology
  • Exome*
  • Gene Expression
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Self-Injurious Behavior / diagnosis
  • Self-Injurious Behavior / genetics*
  • Self-Injurious Behavior / pathology
  • Siblings


  • ELP2 protein, human
  • Intracellular Signaling Peptides and Proteins