A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?. Issue 11 (2nd November 2019)

• Record Type: Journal Article
• Authors: Johannessen, Maria; Haugen, Inger Breistein; Bakken, Trine Lise; Braaten, Øivind
• Is Part Of: BMJ case reports. Volume 12:Issue 11(2019)
• Publication Date: 2019-11-02
• Subjects: child and adolescent psychiatry -- mood disorders (including depression) -- genetic screening / counselling; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2018-228258
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorder may represent a 22q13.33 behavioural phenotype. In childhood, he was diagnosed with mild intellectual disability. He was later diagnosed with Tourette syndrome, atypical autism spectrum disorder and bipolar disorder. Lithium seems effective in treating his affective symptoms. He has mild dysmorphic features, full lips and protruding ears. An array comparative genomic hybridisation showed a 300 kb duplication. The duplication harbours several genes, notably SH3 and multiple ankyrin repeat domain 3 (SHANK 3). The small size helps focus on a critical region for a 22q13.33 duplication syndrome. Mutations, deletions and duplications should be kept in mind as causes of neuropsychiatric disorders, especially in a patient with dysmorphic traits.