SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Eur J Hum Genet. 2018 Sep;26(9):1306-1311. doi: 10.1038/s41431-018-0199-y. Epub 2018 Jun 15.


Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to be associated with human developmental disorders. Here we report detailed phenotypic information and propose that SET is a new Intellectual Disability/Developmental Delay (ID/DD) gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • DNA-Binding Proteins
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / pathology
  • Female
  • Frameshift Mutation
  • Histone Chaperones / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Phenotype*
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Histone Chaperones
  • SET protein, human
  • Transcription Factors