De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

doi:10.1038/s41593-019-0565-2

Article

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

Nature neuroscience - 1 Feb 2020

Rees Elliott, Han Jun, Morgan Joanne, Carrera Noa, Escott-Price Valentina, Pocklington Andrew J, Duffield Madeleine, Hall Lynsey S, Legge Sophie E, Pardiñas Antonio F, Richards Alexander L, Roth Julian, Lezheiko Tatyana, Kondratyev Nikolay, Kaleda Vasilii, Golimbet Vera, Parellada Mara, González-Peñas Javier, Arango Celso, Gawlik Micha, Kirov George, Walters James T R, Holmans Peter, O'Donovan Michael C, Owen Michael J

Abstract excerpt

Schizophrenia is a highly polygenic disorder with important contributions from both common and rare risk alleles. We analyzed exome sequencing data for de novo variants (DNVs) in a new sample of 613 schizophrenia trios and combined this with published data to give a total of 3,444 trios. In this new data, loss-of-function (LoF) DNVs were significantly enriched among 3,471 LoF-intolerant genes, which supports...

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De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia.

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