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


Journal Article

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.

Full Text

Cited Authors

  • Steinfeld, H; Cho, MT; Retterer, K; Person, R; Schaefer, GB; Danylchuk, N; Malik, S; Wechsler, SB; Wheeler, PG; van Gassen, KLI; Terhal, PA; Verhoeven, VJM; van Slegtenhorst, MA; Monaghan, KG; Henderson, LB; Chung, WK

Published Date

  • July 2016

Published In

Volume / Issue

  • 17 / 3

Start / End Page

  • 159 - 164

PubMed ID

  • 27003583

Pubmed Central ID

  • 27003583

Electronic International Standard Serial Number (EISSN)

  • 1364-6753

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s10048-016-0479-z


  • eng