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

Hallie Steinfeld1, Megan T Cho2, Kyle Retterer2

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Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) variants are linked to intellectual disability and developmental delay. This study identifies new cases, reinforcing HIVEP2’s role in neurodevelopmental disorders.

Keywords:
De novoDevelopmental DelayHIVEP2Intellectual DisabilityWhole-exome sequencing

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Area of Science:

  • Genetics
  • Neurodevelopmental Biology
  • Human Molecular Genetics

Background:

  • Intellectual disability and developmental delay are significant neurodevelopmental concerns.
  • Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously implicated in a small number of patients with these conditions.
  • HIVEP2 is a transcription factor crucial for regulating neurodevelopmental pathways.

Purpose of the Study:

  • To investigate the role of HIVEP2 in a cohort of patients presenting with developmental delay, intellectual disability, and dysmorphic features.
  • To identify potential de novo gene-damaging variants in HIVEP2 associated with these neurodevelopmental phenotypes.

Main Methods:

  • Whole-exome sequencing (WES) was employed to analyze the genetic profiles of affected individuals.
  • Variant calling and pathogenicity assessment were performed to identify likely gene-damaging mutations in HIVEP2.
  • Clinical data, including developmental assessments and dysmorphological evaluation, were correlated with genetic findings.

Main Results:

  • Six new patients with developmental delay, intellectual disability, and dysmorphic features were identified.
  • De novo likely gene-damaging variants in HIVEP2 were detected in all six patients.
  • These findings expand the spectrum of HIVEP2-associated neurodevelopmental disorders.

Conclusions:

  • Pathogenic variants in HIVEP2 are a confirmed cause of intellectual disability and developmental delay.
  • HIVEP2 plays a critical role in human neurodevelopment.
  • Genetic analysis, particularly WES, is effective in identifying causative genes for neurodevelopmental disorders.