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.
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Acknowledgments
We gratefully acknowledge the contribution of the patients and their families. This work is supported by a grant from the Simons Foundation.
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This study was approved by the Institutional Review Board of Columbia University. Informed consent was obtained from all individual participants included in the study. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.
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Megan Cho, Kyle Retterer, Rick Person, Kristin Monaghan, and Lindsay Henderson are employees of GeneDx. Wendy Chung is a consultant at BioReference Laboratories.
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Steinfeld, H., Cho, M.T., Retterer, K. et al. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics 17, 159–164 (2016). https://doi.org/10.1007/s10048-016-0479-z
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DOI: https://doi.org/10.1007/s10048-016-0479-z