期刊
NATURE GENETICS
卷 49, 期 8, 页码 1251-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3894
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资金
- National Institute on Drug Abuse (NIDA) [R01-DA034076]
- EU [286213]
- NIMH [R01MH077139, RCMH089905]
- Swedish Research Council [2009-4959, 2011-4659]
- Stanley Medical Research Institute
- Wellcome Trust [WT091310]
- Medical Research Council [MC_PC_15018, G9815508] Funding Source: researchfish
Thus far, a handful of highly penetrant mutations conferring risk of psychosis have been discovered. Here we used whole-genome sequencing and long-range phasing to investigate an Icelandic kindred containing ten individuals with psychosis (schizophrenia, schizoaffective disorder or psychotic bipolar disorder). We found that all affected individuals carry RBM12 (RNA-binding-motif protein 12) c.2377G>T (P = 2.2 x 10(-4)), a nonsense mutation that results in the production of a truncated protein lacking a predicted RNA-recognition motif. We replicated the association in a Finnish family in which a second RBM12 truncating mutation (c.2532delT) segregates with psychosis (P = 0.020). c.2377G>T is not fully penetrant for psychosis; however, we found that carriers unaffected by psychosis resemble patients with schizophrenia in their non-psychotic psychiatric disorder and neuropsychological test profile (P = 0.0043) as well as in their life outcomes (including an increased chance of receiving disability benefits, P = 0.011). As RBM12 has not previously been linked to psychosis, this work provides new insight into psychiatric disease.
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