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. 2016 Jul;17(3):159-64.
doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22.

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

Hallie Steinfeld  1 , Megan T Cho  2 , Kyle Retterer  2 , Rick Person  2 , G Bradley Schaefer  3 , Noelle Danylchuk  3 , Saleem Malik  4 , Stephanie Burns Wechsler  5 , Patricia G Wheeler  6 , Koen L I van Gassen  7 , P A Terhal  7 , Virginie J M Verhoeven  8 , Marjon A van Slegtenhorst  8 , Kristin G Monaghan  2 , Lindsay B Henderson  2 , Wendy K Chung  9   10
Affiliations

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

Hallie Steinfeld et al. Neurogenetics. 2016 Jul.

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.

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Conflict of interest statement

Competing Interests Statement

Megan Cho, Kyle Retterer, Rick Person, Kristin Monaghan, and Lindsay Henderson are employees of GeneDx. Wendy Chung is a consultant to BioReference Laboratories.

Figures

Fig. 1
Fig. 1
Predicted pathogenic variants in HIVEP2. Variants in the solid symbols are reported in this manuscript. Previously published cases are included in checkered symbols.
Fig. 2
Fig. 2
Facial features of Patient 4 which include mild dolichocephaly with a tall forehead, mild hypertelorism, and a glabellar nevus flammeus.
See this image and copyright information in PMC

References

    1. Srivastava S, et al. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2015 - PMC - PubMed
    1. Rauch A, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854):1674–82. - PubMed
    1. Tanaka AJ, et al. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015;97(3):457–64. - PMC - PubMed
    1. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36(10):928–30. - PMC - PubMed
    1. Exome Aggregation Consortium (ExAC) Available from: http://exac.broadinstitute.org.

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