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
. 2020 Oct:224:195-197.
doi: 10.1016/j.schres.2020.08.012. Epub 2020 Sep 14.

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Matthew K Harner  1 , Maya Lichtenstein  2 , Martilias Farrell  3 , Tyler E Dietterich  1 , Dawn M Filmyer  1 , Lisa M Bruno  1 , Tamara F Biondi  3 , James J Crowley  3 , Gabriel Lázaro-Muñoz  4 , Robert Stowe  5 , Rita A Shaughnessy  1 , Jonathan S Berg  3 , Jin Szatkiewicz  3 , Patrick F Sullivan  6 , Richard C Josiassen  7
Affiliations
Case Reports

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

Matthew K Harner et al. Schizophr Res. 2020 Oct.

Abstract

The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disability, developmental delay, facial dysmorphism, microcephaly, ocular disorders, and gastrointestinal abnormalities. There is, however, a lack of detailed longitudinal case studies describing 3q29 deletion syndrome in adults with psychosis. In this case report, we describe the lifetime clinical portrait of a 57-year-old woman with 3q29 deletion syndrome, treatment-resistant psychotic symptoms, multiple medical comorbidities, and a previously unreported co-occurrence of early-onset dementia.

Keywords: 3q29 deletion syndrome; Copy number variant; Dementia; Genetics; Schizophrenia; Treatment resistant psychosis.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest PFS reports potentially competing financial interests from Lundbeck A/S (advisory committee, grant recipient). Some of the sample recruitment and genomic assays were supported by Lundbeck A/S.

References

    1. Chirita Emandi A, Dobrescu AI, Doros G, Hyon C, Miclea D, Popoiu C, Puiu M, Arghirescu S, 2019. A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review. Front Pediatr 7, 270. - PMC - PubMed
    1. Chustz KM, Grimmer SA, Nemeth DG, Pastrana F, 2020. Understanding the neuropsychological effects of 3q29 deletion Syndrome: A fraternal twin case study. Appl Neuropsychol Child, 1–7. - PubMed
    1. Cox DM, Butler MG, 2015. A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol 24(3), 89–94. - PMC - PubMed
    1. den Besten W, Verma R, Kleiger G, Oania RS, Deshaies RJ, 2012. NEDD8 links cullin-RING ubiquitin ligase function to the p97 pathway. Nat Struct Mol Biol 19(5), 511–516, S511. - PMC - PubMed
    1. Farrell M, Lichtenstein M, Harner MK, Crowley JJ, Filmyer DM, Lazaro-Munoz G, Dietterich TE, Bruno LM, Shaughnessy RA, Biondi TF, Burkholder S, Donmoyer J, Berg JS, Szatkiewicz J, Sullivan PF, Josiassen RC, 2020. Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature. Transl Psychiatry 10(1), 42. - PMC - PubMed