Send to

Choose Destination
PLoS One. 2014 Nov 24;9(11):e112745. doi: 10.1371/journal.pone.0112745. eCollection 2014.

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

Author information

Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Switzerland.
Department of Physiology and Pharmacology, West Virginia University School of Medicine, West Virginia, United States of America.
Centre Hospitalier du Rouvray, Sotteville les Rouen et INSERM U1079, France.
1st Department of Psychiatry at the Athens University Medical School, Athens, Greece.
Department of Mental Health and Psychiatry, Geneva, Switzerland.
Inserm U955, Psychiatrie Génétique, Créteil, France; Université Paris Est, Faculté de Médecine, Créteil, France; Assistance Publique-Hôpitaux de Paris, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France; Fondation Fondamental, Créteil, France.
Epidemiology and Genetics Program in Psychiatry, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America.
Department of Psychiatry, University of Halle, Halle, Germany.
Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland.


Schizophrenia (SCZ) is a severe, debilitating mental illness which has a significant genetic component. The identification of genetic factors related to SCZ has been challenging and these factors remain largely unknown. To evaluate the contribution of de novo variants (DNVs) to SCZ, we sequenced the exomes of 53 individuals with sporadic SCZ and of their non-affected parents. We identified 49 DNVs, 18 of which were predicted to alter gene function, including 13 damaging missense mutations, 2 conserved splice site mutations, 2 nonsense mutations, and 1 frameshift deletion. The average number of exonic DNV per proband was 0.88, which corresponds to an exonic point mutation rate of 1.7×10(-8) per nucleotide per generation. The non-synonymous-to-synonymous mutation ratio of 2.06 did not differ from neutral expectations. Overall, this study provides a list of 18 putative candidate genes for sporadic SCZ, and when combined with the results of similar reports, identifies a second proband carrying a non-synonymous DNV in the RGS12 gene.

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center