Evidence that a DISC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation

Green, E. K., Norton, N., Peirce, T., Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 2006. Evidence that a DISC1 frame-shift deletion associated with psychosis in a single family may not be a pathogenic mutation. Molecular Psychiatry 11 (9) , pp. 798-799. 10.1038/sj.mp.4001853

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Abstract

Recently, Sachs et al.1 reported intra-familial association of a frame-shift mutation at the extreme 3' end of exon 12 of the gene Disrupted in Schizophrenia 1 (DISC1) with schizophrenia and schizoaffective phenotypes. In our own sample, we identified this mutation in none of 655 schizophrenia cases but two of 694 non-psychiatrically screened controls. Our findings suggest that this mutation may not play a major role in influencing susceptibility to psychosis.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Nature Publishing Group
ISSN:	1359-4184
Last Modified:	27 Oct 2022 08:23
URI:	https://orca.cardiff.ac.uk/id/eprint/62135

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