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Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
- Source :
- Neurogenetics, 17(3), 159–164. Springer Verlag, Neurogenetics, 17(3), 158-163. Springer-Verlag
- Publication Year :
- 2016
-
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.
- Subjects :
- 0301 basic medicine
Male
Adolescent
Developmental Disabilities
Human immunodeficiency virus (HIV)
Biology
medicine.disease_cause
Article
03 medical and health sciences
Cellular and Molecular Neuroscience
Enhancer binding
Intellectual Disability
Intellectual disability
Exome Sequencing
medicine
Genetics
Journal Article
Humans
Genetics(clinical)
Child
Transcription factor
Genetics (clinical)
Exome sequencing
Mutation
Developmental Delay
medicine.disease
Body Dysmorphic Disorders
Human genetics
DNA-Binding Proteins
030104 developmental biology
Child, Preschool
Whole-exome sequencing
Body dysmorphic disorder
Female
De novo
HIVEP2
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 13646745
- Database :
- OpenAIRE
- Journal :
- Neurogenetics, 17(3), 159–164. Springer Verlag, Neurogenetics, 17(3), 158-163. Springer-Verlag
- Accession number :
- edsair.doi.dedup.....f9117339240b20622f0d90a6b900e3a1