Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
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Publication date
2016-07
Authors
Steinfeld, Hallie
Cho, Megan T.
Retterer, Kyle
Person, Rick
Schaefer, G. Bradley
Danylchuk, Noelle
Malik, Saleem
Wechsler, Stephanie Burns
Wheeler, Patricia G.
Van Gassen, Koen L.I.
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Document Type
Article
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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.
Keywords
De novo, Developmental Delay, HIVEP2, Intellectual Disability, Whole-exome sequencing, Genetics(clinical), Cellular and Molecular Neuroscience, Genetics, Journal Article
Citation
Steinfeld, H, Cho, M T, Retterer, K, Person, R, Schaefer, G B, Danylchuk, N, Malik, S, Wechsler, S B, Wheeler, P G, van Gassen, K L I, Terhal, P A, Verhoeven, V J M, van Slegtenhorst, M A, Monaghan, K G, Henderson, L B & Chung, W K 2016, 'Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features', Neurogenetics, vol. 17, no. 3, pp. 159–164. https://doi.org/10.1007/s10048-016-0479-z