Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22.


Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.

Keywords: De novo; Developmental Delay; HIVEP2; Intellectual Disability; Whole-exome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Body Dysmorphic Disorders / complications
  • Body Dysmorphic Disorders / genetics*
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics*
  • Exome Sequencing
  • Female
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Mutation
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Transcription Factors
  • HIVEP2 protein, human