De novo mutations in schizophrenia implicate synaptic networks.

doi:10.1038/nature12929

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Article

De novo mutations in schizophrenia implicate synaptic networks.

Nature - 13 Feb 2014

Fromer Menachem, Pocklington Andrew J, Kavanagh David H, Williams Hywel J, Dwyer Sarah, Gormley Padhraig, Georgieva Lyudmila, Rees Elliott, Palta Priit, Ruderfer Douglas M, Carrera Noa, Humphreys Isla, Johnson Jessica S, Roussos Panos, Barker Douglas D, Banks Eric, Milanova Vihra, Grant Seth G, Hannon Eilis, Rose Samuel A, Chambert Kimberly, Mahajan Milind, Scolnick Edward M, Moran Jennifer L, Kirov George, Palotie Aarno, McCarroll Steven A, Holmans Peter, Sklar Pamela, Owen Michael J, Purcell Shaun M, O'Donovan Michael C

Abstract excerpt

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small de novo mutations, affecting one or a few nucleotides, are overrepresented among glutamatergic postsynaptic proteins comprising...

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PMID: 24463507
DOI: 10.1038/nature12929
PMCID: PMC4237002

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