Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 Jun 1;35(3):79-82.
doi: 10.1097/YPG.0000000000000388. Epub 2025 Mar 21.

A case of CHD2 variant-associated psychosis and response to treatment

Mark A Colijn  1   2   3 , Iliana Ortega  1   2   3 , Julie Lauzon  4
Affiliations
Case Reports

A case of CHD2 variant-associated psychosis and response to treatment

Mark A Colijn et al. Psychiatr Genet. .

Abstract

Although psychotic symptoms have occasionally been associated with pathogenic CHD2 variants, few articles have provided phenotypic information in this respect or described treatment response. We describe an 18-year-old female with a 15q26.1 interstitial deletion that disrupts CHD2, who at age 12 developed a variety of psychotic symptoms that responded well to quetiapine therapy. She also exhibited improvement in her cognitive functioning, language skills, and social responsiveness, which coincided with the initiation of metformin. This is only the third report to characterize antipsychotic treatment response in an individual harboring a pathogenic CHD2 variant, and the first to do so in relation to quetiapine. Although anecdotal, psychotic symptoms that develop in relation to pathogenic CHD2 variants may respond to atypical antipsychotic therapy, and metformin may have additional benefits in this population with respect to behavioral/social deficits. However, more evidence is needed before any firm conclusions can be drawn.

Keywords: 15q26; autism; genetics; neuropsychiatry; psychosis; schizophrenia.

PubMed Disclaimer

References

    1. Alkelai A, Greenbaum L, Shohat S, Povysil G, Malakar A, Ren Z, et al. (2023). Genetic insights into childhood-onset schizophrenia: the yield of clinical exome sequencing. Schizophr Res 252:138–145.
    1. Bernardo P, Galletta D, Iasevoli F, D’Ambrosio L, Troisi S, Gennaro E, et al. (2017). CHD2 mutations: only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation. Seizure 51:186–189.
    1. Carvill GL, Mefford HC (1993). CHD2-related neurodevelopmental disorders. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH ., editors. GeneReviews((R)). University of Washington.
    1. Dodd S, Sominsky L, Siskind D, Bortolasci CC, Carvalho AF, Maes M, et al. (2022). The role of metformin as a treatment for neuropsychiatric illness. Eur Neuropsychopharmacol 64:32–43.
    1. Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R (2018). Metformin as targeted treatment in fragile X syndrome. Clin Genet 93:216–222.

Publication types

MeSH terms