Article
Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2025
Claus I, Sivalingam S, Koller A C, Weiß A, Mathey C M, Sindermann L, Klein D, Henschel L, Ludwig K U, Hoffmann P, Heimbach A, Heilmann-Heimbach S, Vedder H, Kammerer-Ciernioch J, Stürmer T, Streit F, Maaser-Hecker A, Nenadić I, Baune B T, Hartmann A M, Konte B, Giegling I, Heilbronner U, Wagner M, Philipsen A, Schmidt B, Rujescu D, Buness A, Schulze T G, Rietschel M, Forstner A J, Nöthen M M, Degenhardt F
Abstract excerpt
Duplications of the Xq28,distal locus have been described in male and female patients with schizophrenia (SCZ) or intellectual disability. The Xq28,distal locus spans eight protein-coding genes (F8, CMC4, MTCP1, BRCC3, VBP1, FUNDC2, CLIC2, and RAB39B) and is flanked by recurrent genomic breakpoints. Thus, the issue of which gene/s at this locus is/are relevant in terms of SCZ pathogenesis remains unclear. The aim...
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