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Abstract The subcommissural organ (SCO) is an evolutionarily conserved structure in the brains of vertebrates, but its function remains largely unknown. The protein SCO-spondin, exclusively produced by the SCO, may hold the key to understanding its function. Here, by whole exome sequencing of a family with schizoaffective disorder, we identified a protein-truncating variant (PTV) mutation in the SCO-spondin gene (SSPOP) segregating with this disease.
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.