# Modeling the Human Neuronal Phenotype of the Schizophrenia-Associated 3q29 deletion

> **NIH NIH R01** · EMORY UNIVERSITY · 2021 · $262,240

## Abstract

Project Summary/Abstract
3q29 deletion syndrome is caused by a recurrent typically de novo 1.6 Mb heterozygous deletion and is
associated with a range of neuropsychiatric phenotypes, including mild to moderate intellectual disability,
autism, anxiety, and a 40-fold increased risk for schizophrenia. Although the 3q29 deletion is rare (~1 in 30,000
births), its high risk for neuropsychiatric phenotypes coupled with its relatively low complexity (22 genes in the
deletion interval) make it ideal for molecular dissection. Investigating the neuronal phenotype caused by 3q29
deletion may reveal a core neurodevelopmental process that is disrupted in schizophrenia, autism, and/or
intellectual disability. We propose to assess deletion carriers for behavioral traits along 4 dimensions: cognitive
ability, anxiety, autism spectrum, and presence of psychosis or prodromal features. We will also collect blood
samples from deletion carriers and related controls and bank these materials in the Rutgers University Cell and
DNA Repository (RUCDR) for use by the research community. Finally, we will model the human neuronal
phenotype using iPSC lines derived from deletion carriers who have psychosis. This will be the first human
neuronal model of the 3q29 deletion. Understanding the specific biological processes disrupted by deletion
of the 22 genes in this interval may provide a molecular window into key neurodevelopmental processes
relevant to neuropsychiatric phenotypes. All phenotypic data, molecular data, and cell lines will be rapidly
shared through NDAR, dbGaP (dbgap.ncbi.nlm.nih.gov) and the NIMH Repository and Genomics Resource
(nimhgenetics.org).

## Key facts

- **NIH application ID:** 10071212
- **Project number:** 5R01MH110701-05
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** GARY J BASSELL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $262,240
- **Award type:** 5
- **Project period:** 2017-03-07 → 2021-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10071212

## Citation

> US National Institutes of Health, RePORTER application 10071212, Modeling the Human Neuronal Phenotype of the Schizophrenia-Associated 3q29 deletion (5R01MH110701-05). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10071212. Licensed CC0.

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