| Literature DB >> 27003583 |
Hallie Steinfeld1, Megan T Cho2, Kyle Retterer2, Rick Person2, G Bradley Schaefer3, Noelle Danylchuk3, Saleem Malik4, Stephanie Burns Wechsler5, Patricia G Wheeler6, Koen L I van Gassen7, P A Terhal7, Virginie J M Verhoeven8, Marjon A van Slegtenhorst8, Kristin G Monaghan2, Lindsay B Henderson2, Wendy K Chung9,10.
Abstract
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.Entities:
Keywords: De novo; Developmental Delay; HIVEP2; Intellectual Disability; Whole-exome sequencing
Mesh：
Substances：
Year: 2016 PMID： 27003583 PMCID： PMC4907844 DOI： 10.1007/s10048-016-0479-z
Source DB: PubMed Journal: Neurogenetics ISSN： 1364-6745 Impact factor: 2.660