Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.

A number of variants from the discovery set were not present in the replication sample, including a novel PITPNM2 missense variant, which is located in a highly significant schizophrenia GWAS locus.

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The results were followed-up in a British sample of 2025 bipolar disorder cases and 1358 controls, as well as by enrichment analysis of large GWAS data sets and by the analysis of significant physical connectivity among proteins encoded for by genes nominally significant in this study.

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