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Updated: Aug 1, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Margaret A Hojlo1,2,3,4, Merhawi Ghebrelul4,5, Casie A Genetti4,5

  • 1Early Psychosis Investigation Center (EPICenter), Boston Children's Hospital, Boston, MA 02115, USA.

Genes
|April 28, 2023
PubMed

Insights

Rare genetic variants in the GRIN2A gene are significantly increased in children and adolescents with early-onset psychosis (EOP). This finding supports GRIN2A

Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Early-onset psychosis (EOP) in children and adolescents is associated with more rare genetic variants than adult-onset forms.
  • Previous research identified 10 genes linked to adult-onset schizophrenia.
  • This study investigates if rare variants in these 10 genes are enriched in EOP.

Approach:

  • Compared rare variants predicted by the Variant Effect Predictor Algorithm (VEPHMI) in 10 specific genes between EOP patients (N=34) and controls (N=34).
  • Utilized the sequence kernel association test (SKAT) for statistical analysis.
  • Validated findings by comparing the EOP cohort with three additional control groups.

Key Points:

  • A significant increase in GRIN2A VEPHMI variants was observed in the EOP cohort (p=0.004).
  • Seven individuals (20%) in the EOP cohort carried a rare GRIN2A VEPHMI variant.
  • GRIN2A variant enrichment in EOP was confirmed across multiple control cohorts.

Conclusions:

  • Increased GRIN2A variant burden in EOP suggests its role in the disorder, despite a small sample size.
  • GRIN2A gene variants are implicated in various neuropsychiatric conditions, including childhood-onset schizophrenia.
  • This study reinforces the association of GRIN2A with EOP and its broader role in neuropsychiatric disorders.
Abstract

Keywords:
geneticsgenomicspsychosisschizophrenia

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