De novo mutations in schizophrenia implicate synaptic networks

@article{Fromer2014DeNM,
  title={De novo mutations in schizophrenia implicate synaptic networks},
  author={Menachem Fromer and Andrew Pocklington and David H. Kavanagh and Hywel J Williams and Sarah Dwyer and Padhraig Gormley and Lyudmila Georgieva and Elliott Rees and Priit Palta and Douglas M. Ruderfer and Noa Carrera and Isla Humphreys and Jessica S. Johnson and Panos Roussos and Douglas D. Barker and Eric Banks and Vihra K. Milanova and Seth G. N. Grant and Eilis J Hannon and Samuel A. Rose and Kimberly Chambert and Milind Mahajan and Edward M. Scolnick and Jennifer L. Moran and George Kirov and Aarno Palotie and Steven A. McCarroll and Peter Holmans and Pamela Sklar and Michael J Owen and Shaun M Purcell and Michael C. O’Donovan},
  journal={Nature},
  year={2014},
  volume={506},
  pages={179-184}
}
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 activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-d-aspartate… CONTINUE READING

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