Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Hallie Steinfeld; Megan T. Cho; Kyle Retterer; Rick Person; G. Bradley Schaefer; Noelle Danylchuk; Saleem Malik; Stephanie Burns Wechsler; Patricia G. Wheeler; Koen L I van Gassen; P. A. Terhal; Virginie J M Verhoeven; Marjon A. van Slegtenhorst; Kristin G. Monaghan; Lindsay B. Henderson; Wendy K. Chung

doi:10.1007/s10048-016-0479-z

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L I van Gassen, P. A. Terhal, Virginie J M Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	159–164
Number of pages	6
Journal	Neurogenetics
Volume	17
Issue number	3
DOIs	https://doi.org/10.1007/s10048-016-0479-z
Publication status	Published - Jul 2016

Keywords

De novo
Developmental Delay
HIVEP2
Intellectual Disability
Whole-exome sequencing

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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, 17(3), 159–164. https://doi.org/10.1007/s10048-016-0479-z

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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.",

keywords = "De novo, Developmental Delay, HIVEP2, Intellectual Disability, Whole-exome sequencing",

author = "Hallie Steinfeld and Cho, {Megan T.} and Kyle Retterer and Rick Person and Schaefer, {G. Bradley} and Noelle Danylchuk and Saleem Malik and Wechsler, {Stephanie Burns} and Wheeler, {Patricia G.} and {van Gassen}, {Koen L I} and Terhal, {P. A.} and Verhoeven, {Virginie J M} and {van Slegtenhorst}, {Marjon A.} and Monaghan, {Kristin G.} and Henderson, {Lindsay B.} and Chung, {Wendy K.}",

year = "2016",

month = jul,

doi = "10.1007/s10048-016-0479-z",

language = "English",

volume = "17",

pages = "159–164",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer-Verlag",

number = "3",

}

Steinfeld, H, Cho, MT, Retterer, K, Person, R, Schaefer, GB, Danylchuk, N, Malik, S, Wechsler, SB, Wheeler, PG, van Gassen, KLI, Terhal, PA, Verhoeven, VJM, van Slegtenhorst, MA, Monaghan, KG, Henderson, LB & Chung, WK 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

TY - JOUR

T1 - Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

AU - Steinfeld, Hallie

AU - Cho, Megan T.

AU - Retterer, Kyle

AU - Person, Rick

AU - Schaefer, G. Bradley

AU - Danylchuk, Noelle

AU - Malik, Saleem

AU - Wechsler, Stephanie Burns

AU - Wheeler, Patricia G.

AU - van Gassen, Koen L I

AU - Terhal, P. A.

AU - Verhoeven, Virginie J M

AU - van Slegtenhorst, Marjon A.

AU - Monaghan, Kristin G.

AU - Henderson, Lindsay B.

AU - Chung, Wendy K.

PY - 2016/7

Y1 - 2016/7

N2 - 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.

AB - 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.

KW - De novo

KW - Developmental Delay

KW - HIVEP2

KW - Intellectual Disability

KW - Whole-exome sequencing

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U2 - 10.1007/s10048-016-0479-z

DO - 10.1007/s10048-016-0479-z

M3 - Article

C2 - 27003583

AN - SCOPUS:84961841957

SN - 1364-6745

VL - 17

SP - 159

EP - 164

JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

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