title: Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
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.
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, 10032, NY, USA.
authors.forename: Hallie
authors.initials: H
authors.lastname: Steinfeld
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Megan T
authors.initials: MT
authors.lastname: Cho
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Kyle
authors.initials: K
authors.lastname: Retterer
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Rick
authors.initials: R
authors.lastname: Person
authors.affiliation: Arkansas Children's Hospital, Little Rock, AR, USA.
authors.forename: G Bradley
authors.initials: GB
authors.lastname: Schaefer
authors.affiliation: Arkansas Children's Hospital, Little Rock, AR, USA.
authors.forename: Noelle
authors.initials: N
authors.lastname: Danylchuk
authors.affiliation: Cook Children's Neurology, Forth Worth, TX, USA.
authors.forename: Saleem
authors.initials: S
authors.lastname: Malik
authors.affiliation: Duke University Medical Center, Durham, NC, USA.
authors.forename: Stephanie Burns
authors.initials: SB
authors.lastname: Wechsler
authors.affiliation: Nemours Children's Hospital, Orlando, FL, USA.
authors.forename: Patricia G
authors.initials: PG
authors.lastname: Wheeler
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, The Netherlands.
authors.forename: Koen L I
authors.initials: KL
authors.lastname: van Gassen
authors.affiliation: Department of Genetics, University Medical Center Utrecht, Utrecht, 3584, The Netherlands.
authors.forename: P A
authors.initials: PA
authors.lastname: Terhal
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Virginie J M
authors.initials: VJ
authors.lastname: Verhoeven
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Marjon A
authors.initials: MA
authors.lastname: van Slegtenhorst
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Kristin G
authors.initials: KG
authors.lastname: Monaghan
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: Lindsay B
authors.initials: LB
authors.lastname: Henderson
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, 10032, NY, USA. wkc15@columbia.edu.|Department of Medicine, Columbia University Medical Center, New York, NY, USA. wkc15@columbia.edu.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D000293:Adolescent; D057215:Body Dysmorphic Disorders / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; C077171:HIVEP2 protein, human
keywords: De novo; Developmental Delay; HIVEP2; Intellectual Disability; Whole-exome sequencing