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Family-based study identifies new gene for psychosisAdd to my bookmarks

Nature Genetics

June 20, 2017

The discovery of a new gene linked to psychosis, reported in a paper published online this week in Nature Genetics, provides new insights into the biology of mental health.

Kari Stefansson and colleagues analyzed genome sequences from a large family in Iceland in which ten members experienced symptoms of psychosis. The authors identified a disrupting mutation in the RBM12 gene in all affected individuals. They also found a different damaging mutation in the same gene in a second affected family in Finland. The replication of results provides strong evidence that this gene is important for maintaining neurological function.

Although all affected individuals had a mutated form of the gene, there were also individuals who carried a copy of the mutated gene but were not diagnosed with psychosis. However, these ‘carrier’ individuals had symptoms of non-psychotic psychiatric disorders and impaired cognitive function when compared to individuals without the mutation. This strengthens the evidence that the RBM12 gene is important for normal brain function. The authors conclude that further insight into the gene’s function could contribute to greater understanding and potential treatment of neuropsychological disease.

DOI:10.1038/ng.3894 | Original article

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